Varaico: Literature-Extracted Genetic Variants

IGF1R

983 papers

RefSeq Summary

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage...

Pfam Domains

Recep_L_domainaa 51–161UCSCReceptor L domain

Furin-likeaa 175–333UCSCFurin-like cysteine rich region

Recep_L_domainaa 352–466UCSCReceptor L domain

PK_Tyr_Ser-Thraa 999–1266UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

insulin like growth factor 1 receptor

HGNC Alias Symbols

JTK13; CD221; IGFIR; MGC18216; IGFR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000875.5

p.E1046K

c.3136G>A

Surrounding Variants

1 paper

NM_000875.5

p.F1047L

c.3139T>C

1 paper

NM_000875.5

p.F1047L

c.3141T>A

1 paper

NM_000875.5

p.F1047L

c.3141T>G

1 paper

NM_000875.5

p.L1048F

c.3142C>T

4 papers

NM_000875.5

p.E1043E

c.3129G>A

1 paper

NM_000875.5

p.E1043D

c.3129G>T

1 paper

NM_000875.5

p.E1043A

c.3128A>C

1 paper

NM_000875.5

p.N1049D

c.3145A>G

1 paper

NM_000875.5

p.E1043Q

c.3127G>C

1 paper

NM_000875.5

p.R1042H

c.3125G>A

1 paper

NM_000875.5

p.R1042L

c.3125G>T

1 paper

NM_000875.5

p.R1042C

c.3124C>T