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.Y319*

c.957C>A

Surrounding Variants

1 paper

NM_000208.4

p.Y319*

c.957C>G

1 paper

NM_000208.4

p.Y319C

c.956A>G

2 papers

NM_000208.4

p.T320M

c.959C>T

1 paper

NM_000208.4

p.Y319_T320del1

c.956_958delTGT

1 paper

NM_000208.4

p.G318R

c.952G>C

1 paper

NM_000208.4

p.G318R

c.952G>A

1 paper

NM_000208.4

p.S323fs

c.967_968fs

1 paper

NM_000208.4

p.C315_P316insC

c.943_947ins3

2 papers

NM_000208.4

p.N325insFs

c.974dupA

1 paper

NM_000208.4

p.P313L

c.938C>T

1 paper

NM_000208.4

p.C311Y

c.932G>A

1 paper

NM_000208.4

p.N309_K310del1

c.927_929delTTG