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.L96Splc

c.287+7G>T

Surrounding Variants

1 paper

NM_002529.4

p.L96Splc

c.287+5G>A

1 paper

NM_002529.4

p.L96Splc

c.287+5G>C

1 paper

NM_002529.4

p.L96Splc

c.287+3G>A

1 paper

NM_002529.4

p.L96Splc

c.287+12G>A

1 paper

NM_002529.4

p.L96Splc

c.287+2T>A

1 paper

NM_002529.4

p.L96Splc

c.287+1G>A

1 paper

NM_002529.4

p.L96R

c.287T>G

1 paper

NM_002529.4

p.N95K

c.285C>A

1 paper

NM_002529.4

p.N95K

c.285C>G

1 paper

NM_002529.4

p.R94I

c.281G>T

2 papers

NM_002529.4

p.N95delFs

c.284delA

1 paper

NM_002529.4

p.L93L

c.279G>T