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.H648N

c.1942C>A

Surrounding Variants

1 paper

NM_002529.4

p.H648Y

c.1942C>T

1 paper

NM_002529.4

p.V647A

c.1940T>C

13 papers

NM_002529.4

p.R649W

c.1945C>T

NM_001012331.2

p.R643W

c.1927C>T

2 papers

NM_002529.4

p.V647L

c.1939G>C

2 papers

NM_002529.4

p.V647L

c.1939G>T

6 papers

NM_002529.4

p.R649Q

c.1946G>A

NM_001012331.2

p.R643Q

c.1928G>A

3 papers

NM_002529.4

p.R649L

c.1946G>T

1 paper

NM_002529.4

p.F646S

c.1937T>C

1 paper

NM_002529.4

p.F646I

c.1936T>A

2 papers

NM_002529.4

p.D650A

c.1949A>C

1 paper

NM_002529.4

p.D650G

c.1949A>G

1 paper

NM_002529.4

p.D650V

c.1949A>T