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.M1180I

c.3540G>A

Surrounding Variants

1 paper

NM_000208.4

p.M1180I

c.3540G>T

1 paper

NM_000208.4

p.M1180I

c.3540G>C

5 papers

NM_000208.4

p.M1180K

c.3539T>A

1 paper

NM_000208.4

p.T1181N

c.3542C>A

3 papers

NM_000208.4

p.M1180V

c.3538A>G

1 paper

NM_000208.4

p.R1182G

c.3544A>G

1 paper

NM_000208.4

p.G1179R

c.3535G>C

1 paper

NM_000208.4

p.G1179R

c.3535G>A

1 paper

NM_000208.4

p.I1184I

c.3552C>A

1 paper

NM_000208.4

p.Y1185*

c.3555T>G

1 paper

NM_000208.4

p.Y1185*

c.3555T>A

1 paper

NM_000208.4

p.E1186K

c.3556G>A