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

20 papers

NM_002529.4

p.F589L

c.1765T>C

Surrounding Variants

20 papers

NM_002529.4

p.F589L

c.1767T>A

20 papers

NM_002529.4

p.F589L

c.1767T>G

5 papers

NM_001012331.2

p.E584K

c.1750G>A

NM_002529.4

p.E590K

c.1768G>A

1 paper

NM_002529.4

p.V588I

c.1762G>A

1 paper

NM_002529.4

p.E590D

c.1770G>C

1 paper

NM_002529.4

p.E590D

c.1770G>T

1 paper

NM_002529.4

p.Y591_L597del7

c.1771_1790del21

5 papers

NM_001012331.2

p.M581V

c.1741A>G

NM_002529.4

p.M587V

c.1759A>G

1 paper

NM_002529.4

p.L586R

c.1757T>G

1 paper

NM_002529.4

p.M592R

c.1775T>G

1 paper

NM_002529.4

p.L585M

c.1753C>A

2 papers

NM_002529.4

p.L585fs

c.1753_1754fs