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.A465P

c.1393G>C

Surrounding Variants

1 paper

NM_006005.3

p.A465T

c.1393G>A

2 papers

NM_006005.3

p.T464S

c.1391C>G

2 papers

NM_006005.3

p.T464S

c.1390A>T

4 papers

NM_006005.3

p.L467_L468del1

c.1401_1403delGCT

2 papers

NM_006005.3

p.L467L

c.1399C>T

1 paper

NM_006005.3

p.V463F

c.1387G>T

1 paper

NM_006005.3

p.E462D

c.1386G>C

1 paper

NM_006005.3

p.E462D

c.1386G>T

4 papers

NM_006005.3

p.V463del1

c.1387_1388delGTC

14 papers

NM_006005.3

p.E462G

c.1385A>G

5 papers

NM_006005.3

p.L468del1

c.1402_1403delCTA

1 paper

NM_006005.3

p.L468insFs

c.1403dupT