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.E233Q

c.697G>C

Surrounding Variants

1 paper

NM_002529.4

p.E233V

c.698A>T

1 paper

NM_002529.4

p.L232L

c.696G>A

1 paper

NM_002529.4

p.Q234*

c.700C>T

1 paper

NM_002529.4

p.E231G

c.692A>G

3 papers

NM_002529.4

p.S235*

c.704C>A

3 papers

NM_002529.4

p.S235*

c.704C>G

1 paper

NM_002529.4

p.L229I

c.685C>A

2 papers

NM_002529.4

p.L229F

c.685C>T

2 papers

NM_002529.4

p.I228M

c.684C>G

2 papers

NM_002529.4

p.T237M

c.710C>T

1 paper

NM_002529.4

p.T237T

c.711G>A

1 paper

NM_002529.4

p.V238G

c.713T>G