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.A364insFs

c.1090_1091insT

Surrounding Variants

1 paper

NM_002529.4

p.A364D

c.1091C>A

1 paper

NM_002529.4

p.A364A

c.1092C>A

1 paper

NM_002529.4

p.A363_A364insFs

c.1089_1090insT

2 papers

NM_002529.4

p.A363S

c.1087G>T

1 paper

NM_002529.4

p.N365T

c.1094A>C

1 paper

NM_002529.4

p.L362M

c.1084C>A

1 paper

NM_002529.4

p.L362insFs

c.1085_1086insT

1 paper

NM_002529.4

p.P366S

c.1096C>T

1 paper

NM_002529.4

p.L362fs

c.1084_1085fs

1 paper

NM_002529.4

p.P366L

c.1097C>T

1 paper

NM_001007792.1

p.L331P

c.992T>C

1 paper

NM_002529.4

p.T360T

c.1080G>A