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.Q486_T487delFs

c.1458_1459delGA

Surrounding Variants

15 papers

NM_006005.3

p.Q486*

c.1456C>T

2 papers

NM_006005.3

p.Q486fs

c.1456_1457fs

2 papers

NM_006005.3

p.L484L

c.1452T>G

1 paper

NM_006005.3

p.G485_Q486del2

c.1453_1457del6

1 paper

NM_006005.3

p.F488_P492ins1

c.1463_1474dup12

1 paper

NM_006005.3

p.V483A

c.1448T>C

1 paper

NM_006005.3

p.V483fs

c.1447_1448fs

2 papers

NM_006005.3

p.I489M

c.1467C>G

1 paper

NM_006005.3

p.K482E

c.1444A>G

2 papers

NM_006005.3

p.T490N

c.1469C>A

1 paper

NM_006005.3

p.T490_V491del1

c.1470_1472delCGT

2 papers

NM_006005.3

p.T490T

c.1470C>T