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.N309_K310del1

c.927_929delTTG

Surrounding Variants

1 paper

NM_000208.4

p.C311Y

c.932G>A

1 paper

NM_000208.4

p.P313L

c.938C>T

2 papers

NM_000208.4

p.N308D

c.922A>G

1 paper

NM_000208.4

p.H307Y

c.919C>T

1 paper

NM_000208.4

p.H307N

c.919C>A

1 paper

NM_000208.4

p.C315_P316insC

c.943_947ins3

1 paper

NM_000208.4

p.V305V

c.915C>G

1 paper

NM_000208.4

p.V305D

c.914T>A

1 paper

NM_000208.4

p.Y304F

c.911A>T

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.Q303*

c.907C>T