Varaico: Literature-Extracted Genetic Variants

Gene:DDR1
Variant:p.P147H

DDR1

352 papers

RefSeq Summary

Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The pr...

Pfam Domains

F5_F8_type_Caa 46–182UCSCF5/8 type C domain
DDR1-2_DS-likeaa 190–366UCSCDiscoidin domain-containing receptor 1/2, DS-like domain
PK_Tyr_Ser-Thraa 610–905UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

discoidin domain receptor tyrosine kinase 1

HGNC Previous Symbols

NTRK4; PTK3A; NEP; CAK; EDDR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297654.2
p.P147H
c.440C>A
Surrounding Variants
1 paper
NM_001297654.2
p.P147T
c.439C>A
1 paper
NM_001297654.2
p.D146G
c.437A>G
1 paper
NM_001297654.2
p.D146V
c.437A>T
1 paper
NM_001297654.2
p.G143D
c.428G>A
1 paper
NM_001297654.2
p.D154A
c.461A>C
1 paper
NM_001297654.2
p.P157H
c.470C>A
1 paper
NM_001297654.2
p.P158L
c.473C>T
1 paper
NM_001297654.2
p.P168S
c.502C>T
1 paper
NM_001297654.2
p.P168L
c.503C>T
1 paper
NM_001297654.2
p.R169R
c.507G>C
1 paper
NM_001297654.2
p.A170D
c.509C>A
1 paper
NM_001297654.2
p.R172W
c.514C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."