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.Q1363*

c.4087C>T

Surrounding Variants

1 paper

NM_000875.5

p.P1362S

c.4084C>T

1 paper

NM_000875.5

p.L1361R

c.4082T>G

1 paper

NM_000875.5

p.L1361L

c.4081C>T

1 paper

NM_000875.5

p.S1365L

c.4094C>T

1 paper

NM_000875.5

p.S1365S

c.4095G>A

5 papers

NM_000875.5

p.T1366P

c.4096A>C

1 paper

NM_000875.5

p.A1358A

c.4074C>T

1 paper

NM_000875.5

p.R1357Q

c.4070G>A

2 papers

NM_000875.5

p.R1357W

c.4069C>T

7 papers

NM_000875.5

p.E1356K

c.4066G>A

1 paper

NM_000875.5

p.E1356Q

c.4066G>C

7 papers

NM_000875.5

p.R1353H

c.4058G>A