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.L316F

c.946C>T

Surrounding Variants

2 papers

NM_002529.4

p.W315*

c.945G>A

2 papers

NM_002529.4

p.W315*

c.944G>A

1 paper

NM_002529.4

p.R314H

c.941G>A

1 paper

NM_002529.4

p.R314L

c.941G>T

3 papers

NM_002529.4

p.R314C

c.940C>T

1 paper

NM_002529.4

p.N318S

c.953A>G

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.S312F

c.935C>T

2 papers

NM_002529.4

p.P311L

c.932C>T

1 paper

NM_002529.4

p.S320S

c.960C>T

6 papers

NM_002529.4

p.V321M

c.961G>A