Varaico: Literature-Extracted Genetic Variants

WFS1

944 papers

RefSeq Summary

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell li...

Pfam Domains

WSLRaa 99–133UCSCWolframin Sel1-like repeat

WSLRaa 137–175UCSCWolframin Sel1-like repeat

WEF-handaa 176–255UCSCWolframin EF-hand domain

WC-richaa 666–769UCSCWolframin cysteine-rich domain

WCOBaa 770–890UCSCWolframin C-terminal OB-fold domain

Gene Aliases

HGNC Name

wolframin ER transmembrane glycoprotein

HGNC Previous Symbols

DFNA6; DFNA14; DFNA38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006005.3

p.R868G

c.2602C>G

Surrounding Variants

2 papers

NM_006005.3

p.R868C

c.2602C>T

14 papers

NM_006005.3

p.R868H

c.2603G>A

6 papers

NM_006005.3

p.W867*

c.2601G>A

1 paper

NM_006005.3

p.R868P

c.2603G>C

2 papers

NM_006005.3

p.S869_H872del0

c.2605_2616del12

5 papers

NM_006005.3

p.W867*

c.2600G>A

1 paper

NM_006005.3

p.S869ins4

c.2605_2606ins12

1 paper

NM_006005.3

p.W867fs

c.2599_2600fs

1 paper

NM_006005.3

p.D866_W867insFs

c.2598_2599insT

1 paper

NM_006005.3

p.W867_H872delFs

c.2599_2615del17

1 paper

NM_006005.3

p.S869N

c.2606G>A

19 papers

NM_006005.3

p.D866N

c.2596G>A