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

1 paper

NM_006206.6

p.H650P

c.1949A>C

Surrounding Variants

1 paper

NM_006206.6

p.H650R

c.1949A>G

6 papers

NM_006206.6

p.H650Q

c.1950C>A

6 papers

NM_006206.6

p.H650Q

c.1950C>G

2 papers

NM_006206.6

p.H650Y

c.1948C>T

2 papers

NM_006206.6

p.L651M

c.1951C>A

1 paper

NM_006206.6

p.T649S

c.1946C>G

1 paper

NM_006206.6

p.T649I

c.1946C>T

1 paper

NM_006206.6

p.L651Q

c.1952T>A

1 paper

NM_006206.6

p.T649A

c.1945A>G

1 paper

NM_006206.6

p.T649S

c.1945A>T

1 paper

NM_006206.6

p.L651L

c.1953G>A

1 paper

NM_006206.6

p.G652R

c.1954G>A