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.S855P

c.2563T>C

Surrounding Variants

1 paper

NM_006005.3

p.S855L

c.2564C>T

21 papers

NM_006005.3

p.S855S

c.2565A>G

1 paper

NM_006005.3

p.P856H

c.2567C>A

1 paper

NM_006005.3

p.T857A

c.2569A>G

1 paper

NM_006005.3

p.Q853*

c.2557C>T

1 paper

NM_006005.3

p.A852_L854ins1

c.2555_2560dup6

1 paper

NM_006005.3

p.A852fs

c.2554_2555fs

1 paper

NM_006005.3

p.A852delFs

c.2554delG

1 paper

NM_006005.3

p.M851fs

c.2551_2552fs

1 paper

NM_006005.3

p.M851insFs

c.2551_2552insTG

5 papers

NM_006005.3

p.R859W

c.2575C>T

14 papers

NM_006005.3

p.R859Q

c.2576G>A