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.E316K

c.946G>A

Surrounding Variants

1 paper

NM_001297654.2

p.M318V

c.952A>G

1 paper

NM_001297654.2

p.W313*

c.939G>A

1 paper

NM_001297654.2

p.M318T

c.953T>C

1 paper

NM_001297654.2

p.W313*

c.938G>A

1 paper

NM_001297654.2

p.G308A

c.923G>C

2 papers

NM_001297654.2

p.R307H

c.920G>A

1 paper

NM_001297654.2

p.N325T

c.974A>C

1 paper

NM_001297654.2

p.N325S

c.974A>G

1 paper

NM_001297654.2

p.L326L

c.976C>T

1 paper

NM_001297654.2

p.C303S

c.908G>C

1 paper

NM_001297654.2

p.C303S

c.907T>A

2 papers

NM_001297654.2

p.G300R

c.898G>A