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.K547N

c.1641G>T

Surrounding Variants

1 paper

NM_002529.4

p.K547N

c.1641G>C

2 papers

NM_002529.4

p.K547R

c.1640A>G

1 paper

NM_002529.4

p.E548delFs

c.1642delG

2 papers

NM_002529.4

p.L546P

c.1637T>C

1 paper

NM_002529.4

p.S550P

c.1648T>C

1 paper

NM_002529.4

p.S550Y

c.1649C>A

1 paper

NM_002529.4

p.S550F

c.1649C>T

5 papers

NM_002529.4

p.A545T

c.1633G>A

1 paper

NM_002529.4

p.E551_L563del0

c.1651_1689del39

1 paper

NM_002529.4

p.K544_A545Splc

c.1633-1G>A

4 papers

NM_002529.4

p.K544_A545Splc

c.1633-1G>T

3 papers

NM_002529.4

p.E551delFs

c.1652delA

NM_001012331.2

p.E545delFs

c.1634delA