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.H645R

c.1934A>G

Surrounding Variants

1 paper

NM_002529.4

p.F646I

c.1936T>A

1 paper

NM_002529.4

p.F646S

c.1937T>C

1 paper

NM_002529.4

p.L644M

c.1930C>A

1 paper

NM_002529.4

p.L644insFs

c.1931_1932insT

2 papers

NM_002529.4

p.V647L

c.1939G>C

2 papers

NM_002529.4

p.V647L

c.1939G>T

3 papers

NM_002529.4

p.G643D

c.1928G>A

1 paper

NM_002529.4

p.V647A

c.1940T>C

1 paper

NM_002529.4

p.G643insFs

c.1927_1928insT

1 paper

NM_002529.4

p.G643C

c.1927G>T

1 paper

NM_002529.4

p.H648N

c.1942C>A

1 paper

NM_002529.4

p.H648Y

c.1942C>T