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.Y225insFs

c.675dupT

Surrounding Variants

1 paper

NM_001297654.2

p.G226fs

c.676_677fs

2 papers

NM_001297654.2

p.Q230L

c.689A>T

1 paper

NM_001297654.2

p.G237R

c.709G>A

1 paper

NM_001297654.2

p.K243E

c.727A>G

1 paper

NM_001297654.2

p.R248G

c.742C>G

2 papers

NM_001297654.2

p.R248W

c.742C>T

2 papers

NM_001297654.2

p.R248Q

c.743G>A

1 paper

NM_001297654.2

p.P251L

c.752C>T

2 papers

NM_001297654.2

p.Y253H

c.757T>C

2 papers

NM_001297654.2

p.Y253F

c.758A>T

1 paper

NM_001297654.2

p.Y255*

c.765T>A

1 paper

NM_001297654.2

p.W258*

c.773G>A