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.D169insFs

c.506dupA

Surrounding Variants

1 paper

NM_000208.4

p.N170Y

c.508A>T

1 paper

NM_000208.4

p.N170S

c.509A>G

2 papers

NM_000208.4

p.Y171H

c.511T>C

1 paper

NM_000208.4

p.Y171N

c.511T>A

2 papers

NM_000208.4

p.I172S

c.515T>G

1 paper

NM_000208.4

p.V173M

c.517G>A

1 paper

NM_000208.4

p.V173G

c.518T>G

1 paper

NM_000208.4

p.S161_L164del0

c.481_492del12

1 paper

NM_000208.4

p.N175S

c.524A>G

1 paper

NM_000208.4

p.I163V

c.487A>G

3 papers

NM_000208.4

p.K176N

c.528A>T

1 paper

NM_000208.4

p.D178A

c.533A>C