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

1 paper

NM_000208.4

p.C264C

c.792T>C

Surrounding Variants

1 paper

NM_000208.4

p.C264Y

c.791G>A

1 paper

NM_000208.4

p.E266D

c.798G>C

1 paper

NM_000208.4

p.E266delFs

c.797delT

1 paper

NM_000208.4

p.T267S

c.799A>T

1 paper

NM_000208.4

p.T267P

c.799A>C

1 paper

NM_000208.4

p.G262S

c.784G>A

1 paper

NM_000208.4

p.T267T

c.801C>T

1 paper

NM_000208.4

p.D261E

c.783C>G

1 paper

NM_000208.4

p.D261E

c.783C>A

1 paper

NM_000208.4

p.C268F

c.803G>T

1 paper

NM_000208.4

p.D261H

c.781G>C

1 paper

NM_000208.4

p.C268Y

c.803G>A