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

3 papers

NM_006206.6

p.S566I

c.1697G>T

Surrounding Variants

12 papers

NM_006206.6

p.S566_E571del0

c.1698_1712del15

12 papers

NM_006206.6

p.S566fs

c.1696_1697fs

1 paper

NM_006206.6

p.S566R

c.1696A>C

2 papers

NM_006206.6

p.S566G

c.1696A>G

1 paper

NM_006206.6

p.S566fs

c.1696_1697fs

3 papers

NM_006206.6

p.S566_E571del0

c.1697_1711del15

2 papers

NM_006206.6

p.S566_E571delins

c.1696_1713delinsCGC

1 paper

NM_006206.6

p.S566R

c.1698C>A

1 paper

NM_006206.6

p.S566R

c.1698C>G

1 paper

NM_006206.6

p.P567fs

c.1699_1700fs

3 papers

NM_006206.6

p.P567S

c.1699C>T

1 paper

NM_006206.6

p.S566_E571delFs

c.1696_1711del16