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

8 papers

NM_006005.3

p.S443R

c.1329C>A

Surrounding Variants

10 papers

NM_006005.3

p.S443R

c.1329C>G

14 papers

NM_006005.3

p.S443I

c.1328G>T

8 papers

NM_006005.3

p.S443R

c.1327A>C

1 paper

NM_006005.3

p.Y444*

c.1332C>A

1 paper

NM_006005.3

p.Y444*

c.1332C>G

1 paper

NM_006005.3

p.S443delFs

c.1327delA

1 paper

NM_006005.3

p.L445delFs

c.1333_1334delCT

2 papers

NM_006005.3

p.L445V

c.1333C>G

1 paper

NM_006005.3

p.L445L

c.1333C>T

1 paper

NM_006005.3

p.L445L

c.1335G>C

3 papers

NM_006005.3

p.S446R

c.1336A>C

1 paper

NM_006005.3

p.S446_T455delFs

c.1337_1365del29