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.M38_D39insC

c.112_116ins3

Surrounding Variants

1 paper

NM_000208.4

p.G37_M38insC

c.109_113ins3

1 paper

NM_000208.4

p.P36P

c.108C>T

1 paper

NM_000208.4

p.D39delFs

c.115delC

1 paper

NM_000208.4

p.D39D

c.117T>C

2 papers

NM_000208.4

p.C35Y

c.104G>A

4 papers

NM_000208.4

p.R41W

c.121C>T

1 paper

NM_000208.4

p.V34L

c.100G>T

1 paper

NM_000208.4

p.V34L

c.100G>C

1 paper

NM_000208.4

p.V34Splc

c.101-2A>G

3 papers

NM_000208.4

p.N42K

c.126C>G

3 papers

NM_000208.4

p.N42K

c.126C>A

2 papers

NM_000208.4

p.R46W

c.136A>T