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.E563D

c.1689A>C

Surrounding Variants

1 paper

NM_006206.6

p.E563D

c.1689A>T

1 paper

NM_006206.6

p.S564P

c.1690T>C

3 papers

NM_006206.6

p.S564L

c.1691C>T

1 paper

NM_006206.6

p.I565delFs

c.1693delA

3 papers

NM_006206.6

p.E563K

c.1687G>A

1 paper

NM_006206.6

p.I562I

c.1686T>C

4 papers

NM_006206.6

p.I562M

c.1686T>G

2 papers

NM_006206.6

p.I565fs

c.1693_1694fs

4 papers

NM_006206.6

p.I565V

c.1693A>G

1 paper

NM_006206.6

p.I562T

c.1685T>C

1 paper

NM_006206.6

p.I562F

c.1684A>T

11 papers

NM_006206.6

p.I565insFs

c.1694_1695insA