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.H323D

c.967C>G

Surrounding Variants

4 papers

NM_006005.3

p.H323R

c.968A>G

2 papers

NM_006005.3

p.N325_I328del0

c.973_984del12

3 papers

NM_006005.3

p.H322H

c.966C>T

1 paper

NM_006005.3

p.I324T

c.971T>C

2 papers

NM_006005.3

p.I324M

c.972C>G

6 papers

NM_006005.3

p.T321M

c.962C>T

2 papers

NM_006005.3

p.T321P

c.961A>C

1 paper

NM_006005.3

p.P320R

c.959C>G

3 papers

NM_006005.3

p.N325N

c.975C>T

1 paper

NM_006005.3

p.P320S

c.958C>T

2 papers

NM_006005.3

p.P320fs

c.958_959fs

1 paper

NM_006005.3

p.P320_T321Fs

c.958_962delinsTCCFs