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.F575_F576del2

c.1723_1727del6

Surrounding Variants

1 paper

NM_001012331.2

p.F569_F570ins0

c.1705_1710dup6

3 papers

NM_002529.4

p.R574C

c.1720C>T

7 papers

NM_002529.4

p.V573M

c.1717G>A

1 paper

NM_002529.4

p.I572_V573insFs

c.1716_1717ins5

1 paper

NM_002529.4

p.I572M

c.1716C>G

1 paper

NM_002529.4

p.I572I

c.1716C>T

3 papers

NM_002529.4

p.I572S

c.1715T>G

3 papers

NM_001012331.2

p.G571_T574delFs

c.1711_1721del11

1 paper

NM_002529.4

p.V573_L586delFs

c.1717_1756del40

1 paper

NM_001012331.2

p.I566F

c.1696A>T

1 paper

NM_002529.4

p.F576F

c.1728C>T

1 paper

NM_001012331.2

p.G571S

c.1711G>A