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.A497S

c.1489G>T

Surrounding Variants

2 papers

NM_001297654.2

p.P501L

c.1502C>T

5 papers

NM_001297654.2

p.N502S

c.1505A>G

1 paper

NM_001297654.2

p.R490C

c.1468C>T

2 papers

NM_001297654.2

p.R488Q

c.1463G>A

1 paper

NM_001297654.2

p.R488L

c.1463G>T

1 paper

NM_001297654.2

p.P487S

c.1459C>T

1 paper

NM_001297654.2

p.E486K

c.1456G>A

1 paper

NM_001297654.2

p.Y484H

c.1450T>C

1 paper

NM_001297654.2

p.P478ins1

c.1433_1434insAAA

1 paper

NM_001297654.2

p.T469I

c.1406C>T

1 paper

NM_001297654.2

p.T469A

c.1405A>G

1 paper

NM_001297654.2

p.D468N

c.1402G>A