HR c.3407T>A ;(p.V1136D)

Variant ID: 8-21973913-A-T

NM_005144.4(HR):c.3407T>A;(p.V1136D)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: HR: V1136D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ALUNC: V1136D
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: HR: V1136D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The roles of Jumonji-type oxygenases in human disease.

Epigenomics
Johansson, Catrine C; Tumber, Anthony A; Che, KaHing K; Cain, Peter P; Nowak, Radosław R; Gileadi, Carina C; Oppermann, Udo U
Publication Date: 2014-02

Variant appearance in text: HR: V1136D
PubMed Link: 24579949
Variant Present in the following documents:
  • Main text
  • emss-57740.pdf
View BVdb publication page



Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Journal Of Cellular Biochemistry
Hsieh, Jui-Cheng JC; Slater, Stephanie A SA; Whitfield, G Kerr GK; Dawson, Jamie L JL; Hsieh, Grace G; Sheedy, Craig C; Haussler, Carol A CA; Haussler, Mark R MR
Publication Date: 2010-06-01

Variant appearance in text: HR: V1136D
PubMed Link: 20512927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hairless is a nuclear receptor corepressor essential for skin function.

Nuclear Receptor Signaling
Thompson, Catherine C CC
Publication Date: 2009-12-31

Variant appearance in text: HR: V1136D
PubMed Link: 20087431
Variant Present in the following documents:
  • Main text
  • nrs07010000.pdf
View BVdb publication page



Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Journal Of Dermatological Science
Kraemer, Liv L; Wajid, Muhammad M; Shimomura, Yutaka Y; Christiano, Angela M AM
Publication Date: 2008-04

Variant appearance in text: HR: V1136D
PubMed Link: 18164595
Variant Present in the following documents:
  • Main text
View BVdb publication page