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.P311L

c.932C>T

Surrounding Variants

1 paper

NM_002529.4

p.S312F

c.935C>T

2 papers

NM_002529.4

p.A310T

c.928G>A

1 paper

NM_002529.4

p.P309R

c.926C>G

1 paper

NM_002529.4

p.P309L

c.926C>T

1 paper

NM_002529.4

p.L313Q

c.938T>A

1 paper

NM_002529.4

p.L313_R314ins1

c.939_940insAAG

1 paper

NM_002529.4

p.P309T

c.925C>A

1 paper

NM_002529.4

p.P309S

c.925C>T

3 papers

NM_002529.4

p.R314C

c.940C>T

1 paper

NM_002529.4

p.R314H

c.941G>A

1 paper

NM_002529.4

p.R314L

c.941G>T

4 papers

NM_002529.4

p.Q308fs

c.922_923fs