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

45 papers

NM_002529.4

p.F284Splc

c.851-33T>A

Surrounding Variants

1 paper

NM_002529.4

p.F284Splc

c.851-58T>G

1 paper

NM_002529.4

p.F284Splc

c.851-2A>G

1 paper

NM_002529.4

p.F284Splc

c.851-1G>A

3 papers

NM_002529.4

p.F284fs

c.850_851fs

1 paper

NM_002529.4

p.P285S

c.853C>T

5 papers

NM_002529.4

p.P285L

c.854C>T

1 paper

NM_002529.4

p.A286T

c.856G>A

1 paper

NM_002529.4

p.S287C

c.859A>T

1 paper

NM_002529.4

p.S287N

c.860G>A

1 paper

NM_002529.4

p.S287T

c.860G>C

1 paper

NM_002529.4

p.V288_Q289delFs

c.864_867del4

1 paper

NM_002529.4

p.V288V

c.864G>C