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

6 papers

NM_006005.3

p.K679_E680del1

c.2036_2038delAGG

Surrounding Variants

4 papers

NM_006005.3

p.W678*

c.2034G>A

4 papers

NM_006005.3

p.W678*

c.2033G>A

7 papers

NM_006005.3

p.W678L

c.2033G>T

2 papers

NM_006005.3

p.W678R

c.2032T>A

2 papers

NM_006005.3

p.W678R

c.2032T>C

1 paper

NM_006005.3

p.W678G

c.2032T>G

4 papers

NM_006005.3

p.E680A

c.2039A>C

6 papers

NM_006005.3

p.A677T

c.2029G>A

5 papers

NM_006005.3

p.R676H

c.2027G>A

3 papers

NM_006005.3

p.N682D

c.2044A>G

5 papers

NM_006005.3

p.R676C

c.2026C>T

7 papers

NM_006005.3

p.N682S

c.2045A>G