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.I109F

c.325A>T

Surrounding Variants

1 paper

NM_000208.4

p.I109fs

c.325_326fs

1 paper

NM_000208.4

p.I109V

c.325A>G

1 paper

NM_000208.4

p.V108I

c.322G>A

1 paper

NM_000208.4

p.R110Q

c.329G>A

4 papers

NM_000208.4

p.T107M

c.320C>T

2 papers

NM_000208.4

p.T107R

c.320C>G

2 papers

NM_000208.4

p.G111R

c.331G>C

2 papers

NM_000208.4

p.G111R

c.331G>A

2 papers

NM_000208.4

p.G111V

c.332G>T

1 paper

NM_000208.4

p.G111E

c.332G>A

1 paper

NM_000208.4

p.I109_G111delFs

c.325_331del7

1 paper

NM_000208.4

p.L106L

c.318C>T