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.R342fs

c.1024_1025fs

Surrounding Variants

4 papers

NM_002529.4

p.R342W

c.1024C>T

4 papers

NM_002529.4

p.R342Q

c.1025G>A

1 paper

NM_002529.4

p.V341M

c.1021G>A

1 paper

NM_002529.4

p.V341L

c.1021G>C

1 paper

NM_002529.4

p.V341L

c.1021G>T

1 paper

NM_002529.4

p.T340T

c.1020C>T

1 paper

NM_002529.4

p.G344R

c.1030G>A

1 paper

NM_002529.4

p.G344R

c.1030G>C

2 papers

NM_002529.4

p.G344W

c.1030G>T

1 paper

NM_002529.4

p.G344E

c.1031G>A

1 paper

NM_002529.4

p.E339K

c.1015G>A

1 paper

NM_002529.4

p.C345S

c.1033T>A