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

4 papers

NM_006005.3

p.S469L

c.1406C>T

Surrounding Variants

1 paper

NM_006005.3

p.S469T

c.1405T>A

1 paper

NM_006005.3

p.S469fs

c.1405_1406fs

1 paper

NM_006005.3

p.L470L

c.1408C>T

1 paper

NM_006005.3

p.L468insFs

c.1403dupT

1 paper

NM_006005.3

p.L468L

c.1402C>T

5 papers

NM_006005.3

p.L468del1

c.1402_1403delCTA

2 papers

NM_006005.3

p.L467L

c.1399C>T

4 papers

NM_006005.3

p.L467_L468del1

c.1401_1403delGCT

1 paper

NM_006005.3

p.P472L

c.1415C>T

2 papers

NM_006005.3

p.S473S

c.1419C>T

1 paper

NM_006005.3

p.A465T

c.1393G>A

1 paper

NM_006005.3

p.A465P

c.1393G>C