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

5 papers

NM_006005.3

p.R859W

c.2575C>T

Surrounding Variants

14 papers

NM_006005.3

p.R859Q

c.2576G>A

20 papers

NM_006005.3

p.R859P

c.2576G>C

1 paper

NM_006005.3

p.H860insFs

c.2579_2580dupAC

10 papers

NM_006005.3

p.H860D

c.2578C>G

1 paper

NM_006005.3

p.T857A

c.2569A>G

1 paper

NM_006005.3

p.V861fs

c.2581_2582fs

1 paper

NM_006005.3

p.P856H

c.2567C>A

21 papers

NM_006005.3

p.S855S

c.2565A>G

1 paper

NM_006005.3

p.S855L

c.2564C>T

1 paper

NM_006005.3

p.K862N

c.2586G>C

1 paper

NM_006005.3

p.K862N

c.2586G>T

1 paper

NM_006005.3

p.S855P

c.2563T>C