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.V1037L

c.3109G>C

Surrounding Variants

1 paper

NM_000208.4

p.V1037L

c.3109G>T

2 papers

NM_000208.4

p.G1035V

c.3104G>T

1 paper

NM_000208.4

p.G1040A

c.3119G>C

1 paper

NM_000208.4

p.S1033F

c.3098C>T

1 paper

NM_000208.4

p.N1041fs

c.3121_3122fs

1 paper

NM_000208.4

p.N1041delFs

c.3122delT

1 paper

NM_000208.4

p.G1032D

c.3095G>A

1 paper

NM_000208.4

p.G1030V

c.3089G>T

1 paper

NM_000208.4

p.D1044_I1045del2

c.3130_3134del6

2 papers

NM_000208.4

p.L1026del1

c.3076_3077delAAG

5 papers

NM_000208.4

p.R1027*

c.3079C>T

1 paper

NM_000208.4

p.E1039_I1046del8

c.3115_3137del24