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.L196V

c.586C>G

Surrounding Variants

1 paper

NM_002529.4

p.T195T

c.585G>C

1 paper

NM_002529.4

p.K197_Q199delFs

c.591_597del7

1 paper

NM_002529.4

p.P194P

c.582C>T

1 paper

NM_002529.4

p.P194A

c.580C>G

4 papers

NM_002529.4

p.P194fs

c.580_581fs

1 paper

NM_002529.4

p.V198fs

c.592_593fs

1 paper

NM_002529.4

p.Q199*

c.595C>T

1 paper

NM_002529.4

p.V193fs

c.577_578fs

1 paper

NM_002529.4

p.Q199P

c.596A>C

2 papers

NM_002529.4

p.G192A

c.575G>C

1 paper

NM_002529.4

p.V200M

c.598G>A

1 paper

NM_002529.4

p.V200L

c.598G>C