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.P37S

c.109C>T

Surrounding Variants

1 paper

NM_002529.4

p.P37_A39del0

c.110_115del6

1 paper

NM_002529.4

p.P37R

c.110C>G

1 paper

NM_002529.4

p.P37_A39del3

c.109_116del9

1 paper

NM_002529.4

p.D38A

c.113A>C

1 paper

NM_002529.4

p.P35H

c.104C>A

1 paper

NM_002529.4

p.P35T

c.103C>A

1 paper

NM_002529.4

p.P35S

c.103C>T

1 paper

NM_002529.4

p.A39T

c.115G>A

1 paper

NM_002529.4

p.P35_C36del2

c.103_107del6

1 paper

NM_002529.4

p.A34T

c.100G>A

1 paper

NM_002529.4

p.A34P

c.100G>C

1 paper

NM_002529.4

p.A34_P35del1

c.102_104delACC