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

5 papers

NM_000208.4

p.I925T

c.2774T>C

Surrounding Variants

7 papers

NM_000208.4

p.R926W

c.2776C>T

1 paper

NM_000208.4

p.R926Q

c.2777G>A

7 papers

NM_000208.4

p.R924*

c.2770C>T

1 paper

NM_000208.4

p.R924G

c.2770C>G

1 paper

NM_000208.4

p.V923M

c.2767G>A

1 paper

NM_000208.4

p.Y921D

c.2761T>G

1 paper

NM_000208.4

p.S929S

c.2787C>T

1 paper

NM_000208.4

p.A931A

c.2793G>A

1 paper

NM_000208.4

p.P918L

c.2753C>T

1 paper

NM_000208.4

p.P918R

c.2753C>G

1 paper

NM_000208.4

p.P918Fs

c.2752_2753delinsTFs

2 papers

NM_000208.4

p.P918delins

c.2752_2753delinsTG