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.H569_Q570ins0

c.1705_1710dup6

Surrounding Variants

9 papers

NM_002529.4

p.Q568*

c.1702C>T

1 paper

NM_002529.4

p.H569_C579insFs

c.1706_1737dup32

2 papers

NM_002529.4

p.M566I

c.1698G>A

2 papers

NM_002529.4

p.M566I

c.1698G>C

2 papers

NM_002529.4

p.M566I

c.1698G>T

1 paper

NM_002529.4

p.H569N

c.1705C>A

1 paper

NM_002529.4

p.M566K

c.1697T>A

6 papers

NM_002529.4

p.M566T

c.1697T>C

1 paper

NM_002529.4

p.M566R

c.1697T>G

1 paper

NM_002529.4

p.M566L

c.1696A>T

1 paper

NM_002529.4

p.H569Q

c.1707C>G

1 paper

NM_002529.4

p.Q570*

c.1708C>T