HERC2 c.13272+1061T>G

Variant ID: 15-28365431-A-C

NM_004667.5(HERC2):c.13272+1061T>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review
Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2022-03

Variant appearance in text: rs6497271
PubMed Link: 35350227
Variant Present in the following documents:
  • nwab124_supplemental_file.pdf
View BVdb publication page



Genetic connections and convergent evolution of tropical indigenous peoples in Asia.

Molecular Biology And Evolution
Deng, Lian L; Pan, Yuwen Y; Wang, Yinan Y; Chen, Hao H; Yuan, Kai K; Chen, Sihan S; Lu, Dongsheng D; Lu, Yan Y; Mokhtar, Siti Shuhada SS; Rahman, Thuhairah Abdul TA; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2021-12-23

Variant appearance in text: rs6497271
PubMed Link: 34940850
Variant Present in the following documents:
  • Main text
  • msab361.pdf
View BVdb publication page



Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.

Molecular Biology And Evolution
Deng, Lian L; Pan, Yuwen Y; Wang, Yinan Y; Chen, Hao H; Yuan, Kai K; Chen, Sihan S; Lu, Dongsheng D; Lu, Yan Y; Mokhtar, Siti Shuhada SS; Rahman, Thuhairah Abdul TA; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2022-02-03

Variant appearance in text: rs6497271
PubMed Link: 34940850
Variant Present in the following documents:
  • Main text
  • msab361.pdf
View BVdb publication page



Evolutionary genetics of skin pigmentation in African populations.

Human Molecular Genetics
Feng, Yuanqing Y; McQuillan, Michael A MA; Tishkoff, Sarah A SA
Publication Date: 2021-04-26

Variant appearance in text: rs6497271
PubMed Link: 33438000
Variant Present in the following documents:
  • Main text
View BVdb publication page



African genetic diversity provides novel insights into evolutionary history and local adaptations.

Human Molecular Genetics
Choudhury, Ananyo A; Aron, Shaun S; Sengupta, Dhriti D; Hazelhurst, Scott S; Ramsay, Michèle M
Publication Date: 2018-08-01

Variant appearance in text: rs6497271
PubMed Link: 29741686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loci associated with skin pigmentation identified in African populations.

Science (New York, N.Y.)
Crawford, Nicholas G NG; Kelly, Derek E DE; Hansen, Matthew E B MEB; Beltrame, Marcia H MH; Fan, Shaohua S; Bowman, Shanna L SL; Jewett, Ethan E; Ranciaro, Alessia A; Thompson, Simon S; Lo, Yancy Y; Pfeifer, Susanne P SP; Jensen, Jeffrey D JD; Campbell, Michael C MC; Beggs, William W; Hormozdiari, Farhad F; Mpoloka, Sununguko Wata SW; Mokone, Gaonyadiwe George GG; Nyambo, Thomas T; Meskel, Dawit Wolde DW; Belay, Gurja G; Haut, Jake J; , ; Rothschild, Harriet H; Zon, Leonard L; Zhou, Yi Y; Kovacs, Michael A MA; Xu, Mai M; Zhang, Tongwu T; Bishop, Kevin K; Sinclair, Jason J; Rivas, Cecilia C; Elliot, Eugene E; Choi, Jiyeon J; Li, Shengchao A SA; Hicks, Belynda B; Burgess, Shawn S; Abnet, Christian C; Watkins-Chow, Dawn E DE; Oceana, Elena E; Song, Yun S YS; Eskin, Eleazar E; Brown, Kevin M KM; Marks, Michael S MS; Loftus, Stacie K SK; Pavan, William J WJ; Yeager, Meredith M; Chanock, Stephen S; Tishkoff, Sarah A SA
Publication Date: 2017-11-17

Variant appearance in text: rs6497271
PubMed Link: 29025994
Variant Present in the following documents:
  • Main text
View BVdb publication page



HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

Genome Research
Visser, Mijke M; Kayser, Manfred M; Palstra, Robert-Jan RJ
Publication Date: 2012-03

Variant appearance in text: rs6497271
PubMed Link: 22234890
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

American Journal Of Human Genetics
Sturm, Richard A RA; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Leite, Fabio P N FP; Stark, Mitchell S MS; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW
Publication Date: 2008-02

Variant appearance in text: rs6497271
PubMed Link: 18252222
Variant Present in the following documents:
  • Main text
View BVdb publication page