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.S1217del1

c.3649_3650delAGA

Surrounding Variants

1 paper

NM_000208.4

p.D1218N

c.3652G>A

2 papers

NM_000208.4

p.W1220L

c.3659G>T

3 papers

NM_000208.4

p.F1213L

c.3639C>G

3 papers

NM_000208.4

p.F1213L

c.3639C>A

3 papers

NM_000208.4

p.F1213L

c.3637T>C

1 paper

NM_000208.4

p.G1211V

c.3632G>T

1 paper

NM_000208.4

p.G1211R

c.3631G>C

1 paper

NM_000208.4

p.G1211R

c.3631G>A

1 paper

NM_000208.4

p.E1206D

c.3618G>T

1 paper

NM_000208.4

p.E1206D

c.3618G>C

2 papers

NM_000208.4

p.E1206K

c.3616G>A

11 papers

NM_000208.4

p.P1205L

c.3614C>T