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.L133P

c.398T>C

Surrounding Variants

1 paper

NM_000208.4

p.Y134C

c.401A>G

4 papers

NM_000208.4

p.G132S

c.394G>A

1 paper

NM_000208.4

p.N135delFs

c.404delT

1 paper

NM_000208.4

p.E130V

c.389A>T

1 paper

NM_000208.4

p.L128H

c.383T>A

1 paper

NM_000208.4

p.H127H

c.381C>T

1 paper

NM_000208.4

p.H127P

c.380A>C

1 paper

NM_000208.4

p.I139M

c.417C>G

1 paper

NM_000208.4

p.T140S

c.418A>T

1 paper

NM_000208.4

p.V126A

c.377T>C

1 paper

NM_000208.4

p.R113_V126del0

c.338_376del39

1 paper

NM_000208.4

p.T140S

c.419C>G