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.A370T

c.1108G>A

Surrounding Variants

1 paper

NM_002529.4

p.Q369H

c.1107G>C

1 paper

NM_002529.4

p.Q369H

c.1107G>T

3 papers

NM_002529.4

p.S371Y

c.1112C>A

1 paper

NM_002529.4

p.S371C

c.1112C>G

2 papers

NM_002529.4

p.S371F

c.1112C>T

1 paper

NM_002529.4

p.S371S

c.1113C>T

1 paper

NM_002529.4

p.G368V

c.1103G>T

4 papers

NM_002529.4

p.A372T

c.1114G>A

1 paper

NM_002529.4

p.G368S

c.1102G>A

1 paper

NM_002529.4

p.G368insFs

c.1102_1103insC

4 papers

NM_002529.4

p.G368C

c.1102G>T

1 paper

NM_002529.4

p.A372S

c.1114G>T