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

2 papers

NM_001079817.3

p.M1307I

c.3921G>A

NM_000208.4

p.M1319I

c.3957G>A

Surrounding Variants

2 papers

NM_001079817.3

p.M1307I

c.3921G>T

NM_000208.4

p.M1319I

c.3957G>T

2 papers

NM_001079817.3

p.M1307I

c.3921G>C

NM_000208.4

p.M1319I

c.3957G>C

1 paper

NM_000208.4

p.E1316_L1317ins2

c.3948_3949ins6

1 paper

NM_000208.4

p.E1315K

c.3943G>A

5 papers

NM_000208.4

p.E1313K

c.3937G>A

1 paper

NM_000208.4

p.P1312T

c.3934C>A

1 paper

NM_000208.4

p.V1327fs

c.3979_3980fs

1 paper

NM_000208.4

p.A1311T

c.3931G>A

1 paper

NM_000208.4

p.P1328_L1329insFs

c.3984_3985insT

1 paper

NM_000208.4

p.R1331C

c.3991C>T

1 paper

NM_000208.4

p.R1331H

c.3992G>A

1 paper

NM_000208.4

p.E1307E

c.3921G>A