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.E180A

c.539A>C

Surrounding Variants

1 paper

NM_000208.4

p.C182Y

c.545G>A

1 paper

NM_000208.4

p.D178A

c.533A>C

1 paper

NM_000208.4

p.C182*

c.546T>A

3 papers

NM_000208.4

p.D184N

c.550G>A

3 papers

NM_000208.4

p.K176N

c.528A>T

1 paper

NM_000208.4

p.N175S

c.524A>G

2 papers

NM_000208.4

p.C186F

c.557G>T

1 paper

NM_000208.4

p.V173G

c.518T>G

1 paper

NM_000208.4

p.P187L

c.560C>T

1 paper

NM_000208.4

p.V173M

c.517G>A

1 paper

NM_000208.4

p.P187delFs

c.559delG

1 paper

NM_000208.4

p.G188S

c.562G>A