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.E1067A

c.3200A>C

Surrounding Variants

1 paper

NM_000208.4

p.R1068W

c.3202C>T

1 paper

NM_001079817.3

p.R1054Q

c.3161G>A

4 papers

NM_000208.4

p.R1066*

c.3196C>T

1 paper

NM_000208.4

p.I1069fs

c.3205_3206fs

2 papers

NM_000208.4

p.L1065V

c.3193C>G

1 paper

NM_000208.4

p.S1064G

c.3190A>G

1 paper

NM_000208.4

p.N1073S

c.3218A>G

1 paper

NM_000208.4

p.N1073K

c.3219T>G

1 paper

NM_000208.4

p.N1073K

c.3219T>A

3 papers

NM_000208.4

p.E1074Q

c.3220G>C

1 paper

NM_000208.4

p.E1074delins

c.3220_3222delinsAAA

1 paper

NM_000208.4

p.T1058T

c.3174G>A