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

11 papers

NM_006005.3

p.T461P

c.1381A>C

Surrounding Variants

3 papers

NM_006005.3

p.T461S

c.1381A>T

1 paper

NM_006005.3

p.T461N

c.1382C>A

2 papers

NM_006005.3

p.T461S

c.1382C>G

1 paper

NM_006005.3

p.T461T

c.1383C>G

1 paper

NM_006005.3

p.T461T

c.1383C>T

6 papers

NM_006005.3

p.A460_V463del0

c.1380_1388del9

2 papers

NM_006005.3

p.A460T

c.1378G>A

1 paper

NM_006005.3

p.A460fs

c.1378_1379fs

1 paper

NM_006005.3

p.E462*

c.1384G>T

1 paper

NM_006005.3

p.A460fs

c.1378_1379fs

1 paper

NM_006005.3

p.T461del1

c.1381_1382delACC

14 papers

NM_006005.3

p.E462G

c.1385A>G