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

2 papers

NM_000208.4

p.V55I

c.163G>A

Surrounding Variants

1 paper

NM_000208.4

p.V55F

c.163G>T

2 papers

NM_000208.4

p.V55A

c.164T>C

2 papers

NM_000208.4

p.S54F

c.161C>T

1 paper

NM_000208.4

p.S54C

c.161C>G

3 papers

NM_000208.4

p.I56T

c.167T>C

1 paper

NM_000208.4

p.C53Y

c.158G>A

1 paper

NM_000208.4

p.N52S

c.155A>G

4 papers

NM_000208.4

p.G58R

c.172G>C

4 papers

NM_000208.4

p.G58R

c.172G>A

2 papers

NM_000208.4

p.G58E

c.173G>A

1 paper

NM_000208.4

p.E51E

c.153G>A

2 papers

NM_000208.4

p.E51K

c.151G>A