Varaico: Literature-Extracted Genetic Variants

INSR

1,355 papers

RefSeq Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric r...

Pfam Domains

Recep_L_domainaa 52–164UCSCReceptor L domain

Furin-likeaa 179–340UCSCFurin-like cysteine rich region

Recep_L_domainaa 359–473UCSCReceptor L domain

fn3aa 856–943UCSCFibronectin type III domain

Insulin_TMDaa 940–987UCSCInsulin receptor trans-membrane segment

Gene Aliases

HGNC Name

insulin receptor

HGNC Alias Symbol

CD220

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000208.4

p.R141W

c.421C>T

Surrounding Variants

1 paper

NM_000208.4

p.R141Q

c.422G>A

1 paper

NM_000208.4

p.T140T

c.420C>G

1 paper

NM_000208.4

p.T140S

c.419C>G

1 paper

NM_000208.4

p.T140S

c.418A>T

3 papers

NM_000208.4

p.G142V

c.425G>T

1 paper

NM_000208.4

p.G142D

c.425G>A

1 paper

NM_000208.4

p.I139M

c.417C>G

1 paper

NM_000208.4

p.S143C

c.428C>G

2 papers

NM_000208.4

p.G142_S143delFs

c.424_427del4

1 paper

NM_000208.4

p.S143S

c.429T>C

1 paper

NM_000208.4

p.V144I

c.430G>A

9 papers

NM_000208.4

p.R145C

c.433C>T