Varaico: Literature-Extracted Genetic Variants

PDGFRA

2,475 papers

RefSeq Summary

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of t...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 26–131UCSCVEGFR1-3, N-terminal Ig-like domain

I-setaa 216–307UCSCImmunoglobulin I-set domain

I-setaa 319–410UCSCImmunoglobulin I-set domain

Ig_PDGFR_d4aa 415–549UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 593–950UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

platelet derived growth factor receptor alpha

HGNC Alias Symbols

CD140a; PDGFR2; GAS9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_006206.6

p.I707V

c.2119A>G

Surrounding Variants

1 paper

NM_006206.6

p.D706G

c.2117A>G

1 paper

NM_006206.6

p.D706Y

c.2116G>T

1 paper

NM_006206.6

p.F708L

c.2122T>C

1 paper

NM_006206.6

p.F708C

c.2123T>G

1 paper

NM_006206.6

p.F708L

c.2124T>A

3 papers

NM_006206.6

p.L705P

c.2114T>C

1 paper

NM_006206.6

p.F708L

c.2124T>G

1 paper

NM_006206.6

p.E704K

c.2110G>A

1 paper

NM_006206.6

p.K703K

c.2109A>G

1 paper

NM_006206.6

p.L710delFs

c.2130delG

2 papers

NM_006206.6

p.L710F

c.2130G>C

2 papers

NM_006206.6

p.L710F

c.2130G>T