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.T325delFs

c.974delC

Surrounding Variants

2 papers

NM_002529.4

p.S326R

c.976A>C

2 papers

NM_002529.4

p.E324Q

c.970G>C

1 paper

NM_002529.4

p.S326N

c.977G>A

7 papers

NM_002529.4

p.N323S

c.968A>G

2 papers

NM_002529.4

p.S326R

c.978C>A

2 papers

NM_002529.4

p.S326R

c.978C>G

1 paper

NM_002529.4

p.L322I

c.964C>A

7 papers

NM_002529.4

p.L322fs

c.964_965fs

1 paper

NM_002529.4

p.I328N

c.983T>A

1 paper

NM_002529.4

p.I328I

c.984C>A

10 papers

NM_002529.4

p.V321delFs

c.963delG

6 papers

NM_002529.4

p.V321M

c.961G>A