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.S550F

c.1649C>T

Surrounding Variants

1 paper

NM_002529.4

p.S550Y

c.1649C>A

1 paper

NM_002529.4

p.E551_L563del0

c.1651_1689del39

1 paper

NM_002529.4

p.S550P

c.1648T>C

3 papers

NM_002529.4

p.E551delFs

c.1652delA

NM_001012331.2

p.E545delFs

c.1634delA

2 papers

NM_002529.4

p.E551fs

c.1651_1652fs

NM_001012331.2

p.E545fs

c.1633_1634fs

1 paper

NM_002529.4

p.S552_R554del0

c.1654_1662del9

1 paper

NM_002529.4

p.S552R

c.1654A>C

1 paper

NM_002529.4

p.S552R

c.1656T>A

1 paper

NM_002529.4

p.S552R

c.1656T>G

1 paper

NM_002529.4

p.K547N

c.1641G>C

1 paper

NM_002529.4

p.K547N

c.1641G>T

2 papers

NM_002529.4

p.K547R

c.1640A>G