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

1–12 of 288 variants

6 papers

NM_001297654.2

p.R514C

c.1540C>T

5 papers

NM_001297654.2

p.I365F

c.1093A>T

5 papers

NM_001297654.2

p.N502S

c.1505A>G

3 papers

NM_001297654.2

p.G579R

c.1735G>C

2 papers

NM_001297654.2

p.G36S

c.106G>A

2 papers

NM_001297654.2

p.R93Q

c.278G>A

2 papers

NM_001297654.2

p.G108R

c.322G>A

2 papers

NM_001297654.2

p.G109R

c.325G>C

2 papers

NM_001297654.2

p.R121H

c.362G>A

2 papers

NM_001297654.2

p.R128H

c.383G>A

2 papers

NM_001297654.2

p.S213A

c.637T>G

2 papers

NM_001297654.2

p.Q230L

c.689A>T