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.G1193R

c.3577G>A

Surrounding Variants

1 paper

NM_000208.4

p.G1193R

c.3577G>C

6 papers

NM_000208.4

p.R1191Q

c.3572G>A

1 paper

NM_000208.4

p.Y1190H

c.3568T>C

1 paper

NM_000208.4

p.Y1189*

c.3567C>G

1 paper

NM_000208.4

p.Y1189*

c.3567C>A

3 papers

NM_000208.4

p.L1198F

c.3592C>T

1 paper

NM_000208.4

p.P1199S

c.3595C>T

1 paper

NM_000208.4

p.E1186K

c.3556G>A

1 paper

NM_000208.4

p.Y1185*

c.3555T>G

1 paper

NM_000208.4

p.Y1185*

c.3555T>A

12 papers

NM_000208.4

p.R1201W

c.3601C>T

3 papers

NM_000208.4

p.R1201G

c.3601C>G