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.E70Q

c.208G>C

Surrounding Variants

1 paper

NM_002529.4

p.E70K

c.208G>A

1 paper

NM_002529.4

p.E70fs

c.208_209fs

2 papers

NM_002529.4

p.E70fs

c.208_209fs

3 papers

NM_002529.4

p.T69_E70delFs

c.207_208delTG

1 paper

NM_002529.4

p.L71insFs

c.211_212ins5

2 papers

NM_002529.4

p.T69fs

c.205_206fs

1 paper

NM_002529.4

p.L71I

c.211C>A

1 paper

NM_002529.4

p.L68Q

c.203T>A

5 papers

NM_002529.4

p.N67fs

c.199_200fs

1 paper

NM_002529.4

p.N67fs

c.199_200fs

1 paper

NM_002529.4

p.N67delFs

c.200delA

1 paper

NM_002529.4

p.E66K

c.196G>A