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.L15L

c.45G>A

Surrounding Variants

1 paper

NM_000208.4

p.L15L

c.45G>T

1 paper

NM_000208.4

p.V16M

c.46G>A

1 paper

NM_000208.4

p.V16A

c.47T>C

4 papers

NM_000208.4

p.L15V

c.43C>G

2 papers

NM_000208.4

p.L14Q

c.41T>A

2 papers

NM_000208.4

p.V18G

c.53T>G

3 papers

NM_000208.4

p.P13T

c.37C>A

1 paper

NM_000208.4

p.A19T

c.55G>A

1 paper

NM_000208.4

p.A12ins3

c.34_35ins9

1 paper

NM_000208.4

p.A12E

c.35C>A

1 paper

NM_000208.4

p.A12S

c.34G>T

1 paper

NM_000208.4

p.A11G

c.32C>G