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

2 papers

NM_000208.4

p.W1202*

c.3605G>A

Surrounding Variants

2 papers

NM_000208.4

p.W1202*

c.3606G>A

1 paper

NM_000208.4

p.R1201P

c.3602G>C

12 papers

NM_000208.4

p.R1201Q

c.3602G>A

12 papers

NM_000208.4

p.R1201W

c.3601C>T

3 papers

NM_000208.4

p.R1201G

c.3601C>G

3 papers

NM_000208.4

p.A1204T

c.3610G>A

11 papers

NM_000208.4

p.P1205L

c.3614C>T

1 paper

NM_000208.4

p.P1199S

c.3595C>T

2 papers

NM_000208.4

p.E1206K

c.3616G>A

1 paper

NM_000208.4

p.E1206D

c.3618G>T

1 paper

NM_000208.4

p.E1206D

c.3618G>C

3 papers

NM_000208.4

p.L1198F

c.3592C>T