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.Q204*

c.610C>T

Surrounding Variants

1 paper

NM_000208.4

p.G203R

c.607G>C

1 paper

NM_000208.4

p.G203R

c.607G>A

1 paper

NM_000208.4

p.C209S

c.625T>A

1 paper

NM_000208.4

p.A198delFs

c.594delG

1 paper

NM_000208.4

p.C209S

c.626G>C

1 paper

NM_000208.4

p.W210R

c.628T>C

2 papers

NM_000208.4

p.W210R

c.628T>A

1 paper

NM_000208.4

p.P197delFs

c.591delG

1 paper

NM_000208.4

p.W210*

c.629G>A

1 paper

NM_000208.4

p.P197H

c.590C>A

4 papers

NM_000208.4

p.T211I

c.632C>T

2 papers

NM_000208.4

p.C196S

c.587G>C