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.V89M

c.265G>A

Surrounding Variants

1 paper

NM_001297654.2

p.Q88E

c.262C>G

1 paper

NM_001297654.2

p.Q92fs

c.274_275fs

2 papers

NM_001297654.2

p.R93Q

c.278G>A

1 paper

NM_001297654.2

p.R93R

c.279A>T

1 paper

NM_001297654.2

p.L96del1

c.286_288delCTG

1 paper

NM_001297654.2

p.P81L

c.242C>T

1 paper

NM_001297654.2

p.F80L

c.240T>A

1 paper

NM_001297654.2

p.F80L

c.240T>G

1 paper

NM_001297654.2

p.F80L

c.238T>C

1 paper

NM_001297654.2

p.A98G

c.293C>G

1 paper

NM_001297654.2

p.T102S

c.304A>T

1 paper

NM_001297654.2

p.T102S

c.305C>G