Varaico: Literature-Extracted Genetic Variants

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.A29Splc

c.86-2A>T

Surrounding Variants

1 paper

NM_001297654.2

p.A29Splc

c.86-1G>C

1 paper

NM_001297654.2

p.Y33C

c.98A>G

1 paper

NM_001297654.2

p.G36_M37del2

c.106_110del6

2 papers

NM_001297654.2

p.G36S

c.106G>A

1 paper

NM_001297654.2

p.R40W

c.118C>T

1 paper

NM_001297654.2

p.R40Q

c.119G>A

1 paper

NM_001297654.2

p.S54A

c.160T>G

1 paper

NM_001297654.2

p.D55A

c.164A>C

1 paper

NM_001297654.2

p.S56A

c.166T>G

1 paper

NM_001297654.2

p.T57A

c.169A>G

1 paper

NM_001297654.2

p.A59S

c.175G>T

1 paper

NM_001297654.2

p.A59G

c.176C>G