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.I73M

c.219C>G

Surrounding Variants

2 papers

NM_002529.4

p.I73I

c.219C>T

1 paper

NM_002529.4

p.E74K

c.220G>A

1 paper

NM_002529.4

p.E74*

c.220G>T

1 paper

NM_002529.4

p.I73N

c.218T>A

1 paper

NM_002529.4

p.Y72H

c.214T>C

1 paper

NM_002529.4

p.L71_Y72insFs

c.213_214insT

1 paper

NM_002529.4

p.L71Splc

c.213-1G>A

1 paper

NM_002529.4

p.Q76_Q77delins

c.228_229delinsTT

1 paper

NM_002529.4

p.H78Y

c.232C>T

1 paper

NM_002529.4

p.H78Q

c.234T>A

4 papers

NM_002529.4

p.L79Q

c.236T>A

1 paper

NM_002529.4

p.Q80*

c.238C>T