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.D679H

c.2035G>C

Surrounding Variants

2 papers

NM_002529.4

p.D679N

c.2035G>A

1 paper

NM_002529.4

p.D679_Y680insAG

c.2035_2039ins6

1 paper

NM_002529.4

p.D679G

c.2036A>G

1 paper

NM_002529.4

p.T678T

c.2034C>T

1 paper

NM_002529.4

p.T678I

c.2033C>T

1 paper

NM_002529.4

p.Y680C

c.2039A>G

2 papers

NM_002529.4

p.S677N

c.2030G>A

2 papers

NM_002529.4

p.Y676C

c.2027A>G

1 paper

NM_001012331.2

p.Y675*

c.2025C>A

1 paper

NM_001012331.2

p.Y675*

c.2025C>G

1 paper

NM_002529.4

p.R682S

c.2044C>A

1 paper

NM_002529.4

p.Y676fs

c.2026_2027fs