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

3 papers

NM_006005.3

p.R383C

c.1147C>T

Surrounding Variants

4 papers

NM_006005.3

p.R383H

c.1148G>A

7 papers

NM_006005.3

p.L382P

c.1145T>C

4 papers

NM_006005.3

p.F384F

c.1152C>T

13 papers

NM_006005.3

p.E385K

c.1153G>A

1 paper

NM_006005.3

p.E385E

c.1155G>A

1 paper

NM_006005.3

p.P386_N387insFs

c.1157_1160dup4

2 papers

NM_006005.3

p.P386P

c.1158C>T

1 paper

NM_006005.3

p.D379delFs

c.1136_1137delAC

3 papers

NM_006005.3

p.T378T

c.1134C>A

1 paper

NM_006005.3

p.T378N

c.1133C>A

3 papers

NM_006005.3

p.L388R

c.1163T>G

1 paper

NM_006005.3

p.D389A

c.1166A>C