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

2 papers

NM_000208.4

p.V281L

c.841G>C

Surrounding Variants

2 papers

NM_000208.4

p.V281L

c.841G>T

1 paper

NM_000208.4

p.C280Y

c.839G>A

2 papers

NM_000208.4

p.R279R

c.837C>T

1 paper

NM_000208.4

p.N282S

c.845A>G

2 papers

NM_000208.4

p.R279H

c.836G>A

1 paper

NM_000208.4

p.R279C

c.835C>T

1 paper

NM_000208.4

p.S284G

c.850A>G

3 papers

NM_000208.4

p.C286Y

c.857G>A

1 paper

NM_000208.4

p.F275F

c.825C>T

1 paper

NM_000208.4

p.F275L

c.825C>A

2 papers

NM_000208.4

p.F275C

c.824T>G

1 paper

NM_000208.4

p.C286insFs

c.858dupC