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.F576F

c.1728C>T

Surrounding Variants

1 paper

NM_001012331.2

p.G571S

c.1711G>A

8 papers

NM_002529.4

p.G577R

c.1729G>C

NM_001012331.2

p.G571R

c.1711G>C

3 papers

NM_001012331.2

p.G571fs

c.1711_1712fs

3 papers

NM_001012331.2

p.G571_T574delFs

c.1711_1721del11

12 papers

NM_002529.4

p.G577V

c.1730G>T

1 paper

NM_002529.4

p.G577G

c.1731C>T

1 paper

NM_002529.4

p.V578insFs

c.1733_1734insC

1 paper

NM_001012331.2

p.C573_M586delFs

c.1717_1756del40

1 paper

NM_001012331.2

p.F569_F570ins0

c.1705_1710dup6

1 paper

NM_002529.4

p.F575_F576del2

c.1723_1727del6

3 papers

NM_002529.4

p.R574C

c.1720C>T

1 paper

NM_002529.4

p.C579_T580insFs

c.1737_1738ins7