SHROOM3 c.4726A>G ;(p.K1576E)

Variant ID: 4-77677618-A-G

NM_020859.3(SHROOM3):c.4726A>G;(p.K1576E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.

Frontiers In Genetics
Xu, Liyan L; Yang, Kaili K; Yin, Shanshan S; Gu, Yuwei Y; Fan, Qi Q; Wang, Yawen Y; Zhao, Dongqing D; Ren, Shengwei S
Publication Date: 2022

Variant appearance in text: SHROOM3: K1576E
PubMed Link: 36118869
Variant Present in the following documents:
  • Main text
  • fgene-13-988620.pdf
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: SHROOM3: K1576E
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: SHROOM3: K1576E
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain
Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W
Publication Date: 2019-11-07

Variant appearance in text: SHROOM3: K1576E; rs139635179
PubMed Link: 31699123
Variant Present in the following documents:
  • 13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Scientific Reports
Li, Shuolin S; Liu, Sida S; Chen, Weicheng W; Yuan, Yuan Y; Gu, Ruoyi R; Song, Yangliu Y; Li, Jian J; Cao, Yinyin Y; Lin, Yixiang Y; Xu, Jun J; Wang, Huijun H; Ma, Duan D; Ma, Xiaojing X; Sheng, Wei W; Huang, Guoying G
Publication Date: 2018-08-17

Variant appearance in text: SHROOM3: 4726A>G; Lys1576Glu
PubMed Link: 30120289
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_30204.pdf
View BVdb publication page