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.C495insFs

c.1484_1485insG

Surrounding Variants

1 paper

NM_000208.4

p.E496A

c.1487A>C

1 paper

NM_000208.4

p.N497S

c.1490A>G

1 paper

NM_000208.4

p.K501ins2

c.1502_1503ins6

1 paper

NM_000208.4

p.K501ins2

c.1502_1503ins6

1 paper

NM_000208.4

p.K501N

c.1503A>T

1 paper

NM_000208.4

p.K501N

c.1503A>C

2 papers

NM_000208.4

p.F502I

c.1504T>A

1 paper

NM_000208.4

p.F502L

c.1506T>A

6 papers

NM_000208.4

p.S503A

c.1507T>G

3 papers

NM_000208.4

p.S503P

c.1507T>C

1 paper

NM_000208.4

p.S503ins2

c.1508_1509ins6

1 paper

NM_000208.4

p.I505F

c.1513A>T