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

3 papers

NM_000208.4

p.A1055V

c.3164C>T

Surrounding Variants

6 papers

NM_000208.4

p.V1054M

c.3160G>A

1 paper

NM_000208.4

p.R1053H

c.3158G>A

1 paper

NM_000208.4

p.K1057M

c.3170A>T

1 paper

NM_000208.4

p.K1057R

c.3170A>G

1 paper

NM_000208.4

p.R1053C

c.3157C>T

1 paper

NM_000208.4

p.T1058M

c.3173C>T

1 paper

NM_000208.4

p.T1058T

c.3174G>A

5 papers

NM_001079817.3

p.G1036D

c.3107G>A

NM_000208.4

p.G1048D

c.3143G>A

1 paper

NM_000208.4

p.K1047R

c.3140A>G

1 paper

NM_000208.4

p.E1039_I1046del8

c.3115_3137del24

1 paper

NM_000208.4

p.G1035_I1046del12

c.3103_3137del36

1 paper

NM_000208.4

p.S1064G

c.3190A>G