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

12 papers

NM_006005.3

p.P607R

c.1820C>G

Surrounding Variants

8 papers

NM_006005.3

p.P607L

c.1820C>T

2 papers

NM_006005.3

p.V606G

c.1817T>G

2 papers

NM_006005.3

p.L608L

c.1824G>A

5 papers

NM_006005.3

p.V606L

c.1816G>C

4 papers

NM_006005.3

p.V606L

c.1816G>T

2 papers

NM_006005.3

p.S605insFs

c.1814_1815insA

1 paper

NM_006005.3

p.S605fs

c.1813_1814fs

2 papers

NM_006005.3

p.S605fs

c.1813_1814fs

2 papers

NM_006005.3

p.S605insFs

c.1813_1814insA

1 paper

NM_006005.3

p.C604Y

c.1811G>A

8 papers

NM_006005.3

p.R611C

c.1831C>T

1 paper

NM_006005.3

p.R611fs

c.1831_1832fs