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.L96L

c.288C>G

Surrounding Variants

2 papers

NM_000208.4

p.E97A

c.290A>C

3 papers

NM_000208.4

p.S98R

c.292A>C

1 paper

NM_000208.4

p.G95W

c.283G>T

3 papers

NM_000208.4

p.Y94*

c.282T>G

1 paper

NM_000208.4

p.Y94Y

c.282T>C

3 papers

NM_000208.4

p.Y94*

c.282T>A

3 papers

NM_000208.4

p.S98R

c.294C>G

3 papers

NM_000208.4

p.S98R

c.294C>A

1 paper

NM_000208.4

p.L99fs

c.295_296fs

2 papers

NM_000208.4

p.V93A

c.278T>C

1 paper

NM_000208.4

p.K100E

c.298A>G

1 paper

NM_000208.4

p.V93L

c.277G>C