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.I185_K191delFs

c.555_573del19

Surrounding Variants

1 paper

NM_000208.4

p.G192D

c.575G>A

1 paper

NM_000208.4

p.G192G

c.576C>G

1 paper

NM_000208.4

p.K193Q

c.577A>C

1 paper

NM_000208.4

p.P187_G192del0

c.559_576del18

1 paper

NM_000208.4

p.P187_T189delFs

c.559_565del7

1 paper

NM_000208.4

p.C186_G188del0

c.557_562del6

1 paper

NM_000208.4

p.G188A

c.563G>C

1 paper

NM_000208.4

p.G188D

c.563G>A

2 papers

NM_000208.4

p.C196S

c.586T>A

1 paper

NM_000208.4

p.G188S

c.562G>A

2 papers

NM_000208.4

p.C196S

c.587G>C

1 paper

NM_000208.4

p.C196Y

c.587G>A