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.Y943C

c.2828A>G

Surrounding Variants

2 papers

NM_000208.4

p.V944M

c.2830G>A

1 paper

NM_000208.4

p.T945I

c.2834C>T

3 papers

NM_000208.4

p.D946E

c.2838C>G

3 papers

NM_000208.4

p.D946E

c.2838C>A

1 paper

NM_000208.4

p.T940P

c.2818A>C

10 papers

NM_000208.4

p.T937M

c.2810C>T

1 paper

NM_000208.4

p.N933N

c.2799C>T

1 paper

NM_000208.4

p.A931A

c.2793G>A

1 paper

NM_000208.4

p.S929S

c.2787C>T

1 paper

NM_000208.4

p.R926Q

c.2777G>A

7 papers

NM_000208.4

p.R926W

c.2776C>T

5 papers

NM_000208.4

p.I925T

c.2774T>C