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.V294G

c.881T>G

Surrounding Variants

2 papers

NM_002529.4

p.E295*

c.883G>T

1 paper

NM_002529.4

p.E295G

c.884A>G

1 paper

NM_002529.4

p.T292M

c.875C>T

1 paper

NM_002529.4

p.H291P

c.872A>C

1 paper

NM_002529.4

p.H298D

c.892C>G

1 paper

NM_002529.4

p.H298Y

c.892C>T

5 papers

NM_002529.4

p.H298Q

c.894C>A

1 paper

NM_002529.4

p.L290M

c.868C>A

5 papers

NM_002529.4

p.H298Q

c.894C>G

1 paper

NM_002529.4

p.W299_C300delins

c.896_899delinsG

1 paper

NM_002529.4

p.W299R

c.895T>A

1 paper

NM_002529.4

p.W299R

c.895T>C