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

3 papers

NM_002529.4

p.H61L

c.182A>T

Surrounding Variants

1 paper

NM_002529.4

p.H61R

c.182A>G

1 paper

NM_002529.4

p.H60Q

c.180C>A

1 paper

NM_002529.4

p.H60Q

c.180C>G

1 paper

NM_002529.4

p.H60_H61delins

c.180_181delinsAA

2 papers

NM_002529.4

p.L62R

c.185T>G

1 paper

NM_002529.4

p.L62insFs

c.185_186insA

2 papers

NM_002529.4

p.G64D

c.191G>A

1 paper

NM_002529.4

p.S58_L62del0

c.172_186del15

1 paper

NM_002529.4

p.D57_L62del0

c.170_184del15

1 paper

NM_002529.4

p.E66K

c.196G>A

2 papers

NM_002529.4

p.E66Q

c.196G>C

1 paper

NM_002529.4

p.E66*

c.196G>T