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.V1086del1

c.3256_3257delCAC

Surrounding Variants

1 paper

NM_000208.4

p.V1086V

c.3258G>A

2 papers

NM_000208.4

p.V1086E

c.3257T>A

1 paper

NM_000208.4

p.V1086M

c.3256G>A

7 papers

NM_000208.4

p.H1085H

c.3255C>T

1 paper

NM_000208.4

p.C1083S

c.3248G>C

1 paper

NM_000208.4

p.C1083S

c.3247T>A

1 paper

NM_000208.4

p.K1079R

c.3236A>G

1 paper

NM_000208.4

p.M1078R

c.3233T>G

1 paper

NM_000208.4

p.I1069_V1077delFs

c.3205_3229del25

1 paper

NM_000208.4

p.S1076L

c.3227C>T

1 paper

NM_000208.4

p.E1074delins

c.3220_3222delinsAAA

3 papers

NM_000208.4

p.E1074Q

c.3220G>C