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

3 papers

NM_000208.4

p.K148*

c.442A>T

Surrounding Variants

1 paper

NM_000208.4

p.K148K

c.444G>A

1 paper

NM_000208.4

p.E147K

c.439G>A

1 paper

NM_000208.4

p.N149D

c.445A>G

6 papers

NM_000208.4

p.I146M

c.438C>G

1 paper

NM_000208.4

p.I146T

c.437T>C

1 paper

NM_000208.4

p.K148_N149del1

c.444_446delTTC

1 paper

NM_000208.4

p.N150I

c.449A>T

3 papers

NM_000208.4

p.E151*

c.451G>T

1 paper

NM_000208.4

p.E151Q

c.451G>C

9 papers

NM_000208.4

p.R145C

c.433C>T

1 paper

NM_000208.4

p.V144I

c.430G>A

1 paper

NM_000208.4

p.S143S

c.429T>C