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

11 papers

NM_000208.4

p.A119V

c.356C>T

Surrounding Variants

1 paper

NM_000208.4

p.A119T

c.355G>A

1 paper

NM_000208.4

p.N117_Y118delFs

c.350_353del4

1 paper

NM_000208.4

p.L120Q

c.359T>A

1 paper

NM_000208.4

p.Y118C

c.353A>G

1 paper

NM_000208.4

p.N117K

c.351C>G

1 paper

NM_000208.4

p.N117K

c.351C>A

1 paper

NM_000208.4

p.N117Y

c.349A>T

1 paper

NM_000208.4

p.F116L

c.348T>G

1 paper

NM_000208.4

p.F116L

c.348T>A

1 paper

NM_000208.4

p.F116L

c.346T>C

3 papers

NM_000208.4

p.F115S

c.344T>C

1 paper

NM_000208.4

p.V108_F115delFs

c.324_343del20