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.A2V

c.5C>T

Surrounding Variants

13 papers

NM_000208.4

p.A2G

c.5C>G

1 paper

NM_000208.4

p.A2insFs

c.5_6insTC

5 papers

NM_000208.4

p.M1I

c.3G>T

2 papers

NM_000208.4

p.M1I

c.3G>C

3 papers

NM_000208.4

p.M1I

c.3G>A

1 paper

NM_000208.4

p.T3A

c.7A>G

3 papers

NM_000208.4

p.M1T

c.2T>C

1 paper

NM_000208.4

p.M1K

c.2T>A

1 paper

NM_000208.4

p.T3T

c.9C>T

1 paper

NM_000208.4

p.M1L

c.1A>T

1 paper

NM_000208.4

p.M1V

c.1A>G

1 paper

NM_000208.4

p.M1L

c.1A>C