Varaico: Literature-Extracted Genetic Variants

Gene:INSR

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
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
1–12 of 1083 variants
20 papers
NM_000208.4
p.V1012M
c.3034G>A
13 papers
NM_000208.4
p.A2G
c.5C>G
12 papers
NM_000208.4
p.R1201W
c.3601C>T
12 papers
NM_000208.4
p.R1201Q
c.3602G>A
11 papers
NM_000208.4
p.A119V
c.356C>T
11 papers
NM_000208.4
p.P1205L
c.3614C>T
10 papers
NM_000208.4
p.E238K
c.712G>A
10 papers
NM_000208.4
p.T937M
c.2810C>T
9 papers
NM_000208.4
p.R145C
c.433C>T
9 papers
NM_000208.4
p.R1158W
c.3472C>T
8 papers
NM_000208.4
p.C495insFs
c.1484_1485insG
8 papers
NM_000208.4
p.Y1361C
c.4082A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."