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.E1135K

c.3403G>A

Surrounding Variants

1 paper

NM_000208.4

p.L1133I

c.3397C>A

1 paper

NM_000208.4

p.M1136delFs

c.3408delC

2 papers

NM_000208.4

p.I1137T

c.3410T>C

1 paper

NM_000208.4

p.Q1138*

c.3412C>T

2 papers

NM_000208.4

p.P1131R

c.3392C>G

1 paper

NM_000208.4

p.A1140T

c.3418G>A

2 papers

NM_000208.4

p.A1140V

c.3419C>T

1 paper

NM_000208.4

p.A1140G

c.3419C>G

1 paper

NM_000208.4

p.R1128fs

c.3382_3383fs

2 papers

NM_000208.4

p.R1128H

c.3383G>A

1 paper

NM_000208.4

p.R1128delFs

c.3382delG

2 papers

NM_000208.4

p.I1143F

c.3427A>T