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.P335L

c.1004C>T

Surrounding Variants

1 paper

NM_002529.4

p.P335Fs

c.1003delinsGAFs

1 paper

NM_002529.4

p.P335P

c.1005G>A

1 paper

NM_002529.4

p.A336insFs

c.1006_1007dupGC

1 paper

NM_002529.4

p.A336insFs

c.1006_1007insTA

1 paper

NM_002529.4

p.A336S

c.1006G>T

1 paper

NM_002529.4

p.A336E

c.1007C>A

1 paper

NM_002529.4

p.A336_N338delFs

c.1008_1014del7

2 papers

NM_002529.4

p.F332L

c.996C>A

2 papers

NM_002529.4

p.F332L

c.996C>G

2 papers

NM_002529.4

p.F332L

c.994T>C

1 paper

NM_002529.4

p.E339K

c.1015G>A

1 paper

NM_002529.4

p.T330A

c.988A>G