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.N1151N

c.3453C>T

Surrounding Variants

1 paper

NM_000208.4

p.A1152T

c.3454G>A

2 papers

NM_000208.4

p.L1150P

c.3449T>C

1 paper

NM_000208.4

p.Y1149*

c.3447C>G

1 paper

NM_000208.4

p.Y1149*

c.3447C>A

2 papers

NM_000208.4

p.G1146A

c.3437G>C

5 papers

NM_000208.4

p.G1146R

c.3436G>C

5 papers

NM_000208.4

p.G1146R

c.3436G>A

6 papers

NM_000208.4

p.H1157R

c.3470A>G

4 papers

NM_000208.4

p.H1157Q

c.3471T>G

5 papers

NM_000208.4

p.H1157Q

c.3471T>A

1 paper

NM_000208.4

p.D1145D

c.3435C>T

9 papers

NM_000208.4

p.R1158W

c.3472C>T