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.G32A

c.95G>C

Surrounding Variants

3 papers

NM_000208.4

p.G32R

c.94G>C

5 papers

NM_000208.4

p.G32R

c.94G>A

4 papers

NM_000208.4

p.Y30*

c.90C>G

6 papers

NM_000208.4

p.Y30*

c.90C>A

1 paper

NM_000208.4

p.Y30delFs

c.88delA

1 paper

NM_000208.4

p.H28R

c.83A>G

1 paper

NM_000208.4

p.G24A

c.71G>C

1 paper

NM_000208.4

p.L23L

c.69G>C

1 paper

NM_000208.4

p.L23Q

c.68T>A

1 paper

NM_000208.4

p.L21R

c.62T>G

1 paper

NM_000208.4

p.L21P

c.62T>C

1 paper

NM_000208.4

p.P13_L21del0

c.38_61del24