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

13 papers

NM_000875.5

p.R739Q

c.2216G>A

Surrounding Variants

1 paper

NM_000875.5

p.R739L

c.2216G>T

3 papers

NM_000875.5

p.R739W

c.2215C>T

1 paper

NM_000875.5

p.R739R

c.2217G>C

1 paper

NM_000875.5

p.R737K

c.2210G>A

1 paper

NM_000875.5

p.R737M

c.2210G>T

1 paper

NM_000875.5

p.M743T

c.2228T>C

1 paper

NM_000875.5

p.V745_T749del0

c.2233_2247del15

1 paper

NM_000875.5

p.V745_M750del0

c.2235_2249del15

1 paper

NM_000875.5

p.A746T

c.2236G>A

1 paper

NM_000875.5

p.N747_T749del0

c.2239_2247del9

1 paper

NM_000875.5

p.N747_S752del0

c.2240_2254del15

1 paper

NM_000875.5

p.A746_S752del0

c.2237_2254del18