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

8 papers

NM_000208.4

p.Y1361C

c.4082A>G

Surrounding Variants

1 paper

NM_000208.4

p.Y1361S

c.4082A>C

1 paper

NM_000208.4

p.E1357G

c.4070A>G

1 paper

NM_000208.4

p.G1366*

c.4096G>T

1 paper

NM_000208.4

p.E1356K

c.4066G>A

1 paper

NM_000208.4

p.Y1355*

c.4065C>G

1 paper

NM_000208.4

p.Y1355*

c.4065C>A

1 paper

NM_000208.4

p.G1367D

c.4100G>A

2 papers

NM_000208.4

p.Y1355H

c.4063T>C

1 paper

NM_000208.4

p.R1353W

c.4057C>T

1 paper

NM_000208.4

p.K1352N

c.4056G>C

1 paper

NM_000208.4

p.R1372W

c.4114C>T

1 paper

NM_000208.4

p.G1346E

c.4037G>A