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

2 papers

NM_002529.4

p.M1L

c.1A>C

Surrounding Variants

18 papers

NM_002529.4

p.M1insFs

c.2dupT

3 papers

NM_002529.4

p.M1V

c.1A>G

1 paper

NM_002529.4

p.M1L

c.1A>T

1 paper

NM_002529.4

p.M1Fs

c.1_2delinsTFs

2 papers

NM_002529.4

p.M1K

c.2T>A

1 paper

NM_002529.4

p.M1T

c.2T>C

1 paper

NM_002529.4

p.M1R

c.2T>G

1 paper

NM_002529.4

p.M1I

c.3G>A

1 paper

NM_002529.4

p.M1_L2insFs

c.3_4insA

2 papers

NM_002529.4

p.L2Fs

c.4delinsTCFs

1 paper

NM_002529.4

p.L2M

c.4C>A

1 paper

NM_002529.4

p.L2insFs

c.5_6insA