Varaico: Literature-Extracted Genetic Variants

Gene:DDR1
Variant:p.A279T

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.A279T
c.835G>A
Surrounding Variants
1 paper
NM_001297654.2
p.R278K
c.833G>A
1 paper
NM_001297654.2
p.A282T
c.844G>A
1 paper
NM_001297654.2
p.E271A
c.812A>C
1 paper
NM_001297654.2
p.M270I
c.810G>A
1 paper
NM_001297654.2
p.M270I
c.810G>C
1 paper
NM_001297654.2
p.V268M
c.802G>A
1 paper
NM_001297654.2
p.W258*
c.774G>A
1 paper
NM_001297654.2
p.W258*
c.773G>A
1 paper
NM_001297654.2
p.Y255*
c.765T>A
2 papers
NM_001297654.2
p.Y253F
c.758A>T
2 papers
NM_001297654.2
p.Y253H
c.757T>C
1 paper
NM_001297654.2
p.P251L
c.752C>T
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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."