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.R46delFs

c.138delC

Surrounding Variants

1 paper

NM_000208.4

p.L47V

c.139T>G

2 papers

NM_000208.4

p.R46S

c.138G>T

2 papers

NM_000208.4

p.R46S

c.138G>C

1 paper

NM_000208.4

p.R46M

c.137G>T

1 paper

NM_000208.4

p.R46T

c.137G>C

2 papers

NM_000208.4

p.R46K

c.137G>A

2 papers

NM_000208.4

p.R46W

c.136A>T

1 paper

NM_000208.4

p.H48Q

c.144T>G

1 paper

NM_000208.4

p.H48Q

c.144T>A

2 papers

NM_000208.4

p.E51K

c.151G>A

3 papers

NM_000208.4

p.N42K

c.126C>G

3 papers

NM_000208.4

p.N42K

c.126C>A