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

10 papers

NM_006206.6

p.H845Y

c.2533C>T

Surrounding Variants

4 papers

NM_006206.6

p.H845D

c.2533C>G

3 papers

NM_006206.6

p.D846del1

c.2536_2537delGAT

2 papers

NM_006206.6

p.H845P

c.2534A>C

4 papers

NM_006206.6

p.H845R

c.2534A>G

4 papers

NM_006206.6

p.H845_N848delins

c.2534_2543delinsC

3 papers

NM_006206.6

p.M844I

c.2532G>A

3 papers

NM_006206.6

p.M844I

c.2532G>C

3 papers

NM_006206.6

p.M844I

c.2532G>T

3 papers

NM_006206.6

p.H845del1

c.2533_2534delCAT

2 papers

NM_006206.6

p.H845_N848del0

c.2533_2544del12

2 papers

NM_006206.6

p.M844K

c.2531T>A

1 paper

NM_006206.6

p.M844T

c.2531T>C