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.P600delFs

c.1798delC

Surrounding Variants

1 paper

NM_001297654.2

p.P600fs

c.1798_1799fs

1 paper

NM_001297654.2

p.G599R

c.1795G>A

1 paper

NM_001297654.2

p.R602T

c.1805G>C

1 paper

NM_001297654.2

p.A595insFs

c.1783_1784ins4

2 papers

NM_001297654.2

p.R607Q

c.1820G>A

1 paper

NM_001297654.2

p.R609*

c.1825C>T

1 paper

NM_001297654.2

p.R611C

c.1831C>T

1 paper

NM_001297654.2

p.E618K

c.1852G>A

1 paper

NM_001297654.2

p.E618Q

c.1852G>C

1 paper

NM_001297654.2

p.G579V

c.1736G>T

3 papers

NM_001297654.2

p.G579R

c.1735G>C

1 paper

NM_001297654.2

p.F621L

c.1861T>C