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.R525Q

c.1574G>A

Surrounding Variants

1 paper

NM_001297654.2

p.G526R

c.1576G>C

1 paper

NM_001297654.2

p.G526_P527ins12

c.1578_1579ins36

1 paper

NM_001297654.2

p.P527L

c.1580C>T

1 paper

NM_001297654.2

p.P523S

c.1567C>T

1 paper

NM_001297654.2

p.R522R

c.1566T>C

1 paper

NM_001297654.2

p.P524insFs

c.1571_1572insC

1 paper

NM_001297654.2

p.P530delFs

c.1590delC

1 paper

NM_001297654.2

p.P530H

c.1589C>A

1 paper

NM_001297654.2

p.P530L

c.1589C>T

1 paper

NM_001297654.2

p.T531fs

c.1591_1592fs

1 paper

NM_001297654.2

p.T531fs

c.1591_1592fs

1 paper

NM_001297654.2

p.T531I

c.1592C>T