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.L822delFs

c.2464delC

Surrounding Variants

1 paper

NM_006005.3

p.L822fs

c.2464_2465fs

1 paper

NM_006005.3

p.I823del1

c.2467_2469delATC

1 paper

NM_006005.3

p.G820D

c.2459G>A

2 papers

NM_006005.3

p.G820S

c.2458G>A

1 paper

NM_006005.3

p.I823fs

c.2467_2468fs

1 paper

NM_006005.3

p.Q819P

c.2456A>C

1 paper

NM_006005.3

p.I823M

c.2469C>G

9 papers

NM_006005.3

p.Q819*

c.2455C>T

5 papers

NM_006005.3

p.I823I

c.2469C>T

2 papers

NM_006005.3

p.R818R

c.2454C>T

5 papers

NM_006005.3

p.E824K

c.2470G>A

1 paper

NM_006005.3

p.E824*

c.2470G>T