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.D1014D

c.3042C>T

Surrounding Variants

2 papers

NM_000208.4

p.P1013L

c.3038C>T

1 paper

NM_000208.4

p.W1016*

c.3047G>A

1 paper

NM_000208.4

p.W1016*

c.3048G>A

20 papers

NM_000208.4

p.V1012M

c.3034G>A

2 papers

NM_000208.4

p.Y1011Y

c.3033C>T

1 paper

NM_000208.4

p.V1010L

c.3028G>T

1 paper

NM_000208.4

p.V1010L

c.3028G>C

1 paper

NM_000208.4

p.S1019F

c.3056C>T

3 papers

NM_000208.4

p.R1020*

c.3058C>T

1 paper

NM_000208.4

p.S1009F

c.3026C>T

1 paper

NM_000208.4

p.R1020Q

c.3059G>A

1 paper

NM_000208.4

p.C1008S

c.3023G>C