Varaico: Literature-Extracted Genetic Variants

NTRK1

1,469 papers

RefSeq Summary

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of th...

Pfam Domains

LRRCT_2aa 151–192UCSCLeucine rich repeat C-terminal motif

TrkA_TMDaa 417–438UCSCTyrosine kinase receptor A trans-membrane domain

PK_Tyr_Ser-Thraa 510–781UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 1

HGNC Alias Symbols

TRK; TRKA; MTC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002529.4

p.R599H

c.1796G>A

Surrounding Variants

1 paper

NM_002529.4

p.R599_F600delins

c.1796_1799delinsG

1 paper

NM_002529.4

p.R599G

c.1795C>G

2 papers

NM_002529.4

p.N598N

c.1794C>T

1 paper

NM_002529.4

p.R599ins0

c.1795_1797dupCGC

1 paper

NM_002529.4

p.N598T

c.1793A>C

1 paper

NM_002529.4

p.N598S

c.1793A>G

3 papers

NM_002529.4

p.F600Y

c.1799T>A

1 paper

NM_002529.4

p.N598_F600ins1

c.1793_1798dup6

1 paper

NM_002529.4

p.F600L

c.1800C>A

1 paper

NM_002529.4

p.L601F

c.1801C>T

1 paper

NM_002529.4

p.L597P

c.1790T>C

6 papers

NM_002529.4

p.L601R

c.1802T>G

NM_001012331.2

p.L595R

c.1784T>G