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

10 papers

NM_002529.4

p.V211E

c.632T>A

Surrounding Variants

12 papers

NM_002529.4

p.V211M

c.631G>A

1 paper

NM_002529.4

p.D210_V211insFs

c.630_631insA

1 paper

NM_002529.4

p.D210N

c.628G>A

1 paper

NM_002529.4

p.L213_R214insT

c.637_641ins3

2 papers

NM_002529.4

p.L213L

c.637C>T

22 papers

NM_002529.4

p.L213P

c.638T>C

1 paper

NM_002529.4

p.D209Y

c.625G>T

4 papers

NM_002529.4

p.R214W

c.640C>T

4 papers

NM_002529.4

p.R214Q

c.641G>A

1 paper

NM_002529.4

p.R214insFs

c.641_642insT

1 paper

NM_002529.4

p.G208W

c.622G>T

1 paper

NM_002529.4

p.V207A

c.620T>C