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.C255Y

c.764G>A

Surrounding Variants

2 papers

NM_000208.4

p.C255C

c.765C>T

1 paper

NM_000208.4

p.C255W

c.765C>G

5 papers

NM_000208.4

p.R256C

c.766C>T

1 paper

NM_000208.4

p.C252_N257del0

c.756_770del15

2 papers

NM_000208.4

p.T250del1

c.748_749delGGT

1 paper

NM_000208.4

p.D248_K251delFs

c.742_751del10

1 paper

NM_000208.4

p.L260fs

c.778_779fs

1 paper

NM_000208.4

p.L260_D261insG

c.778_782ins3

2 papers

NM_000208.4

p.L260R

c.779T>G

2 papers

NM_000208.4

p.L260P

c.779T>C

1 paper

NM_000208.4

p.D261H

c.781G>C

1 paper

NM_000208.4

p.D261E

c.783C>G