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.F385L

c.1153T>C

Surrounding Variants

1 paper

NM_002529.4

p.F385Y

c.1154T>A

1 paper

NM_002529.4

p.E384G

c.1151A>G

1 paper

NM_002529.4

p.F385L

c.1155C>A

1 paper

NM_002529.4

p.F385L

c.1155C>G

2 papers

NM_002529.4

p.E384K

c.1150G>A

1 paper

NM_002529.4

p.F383F

c.1149C>T

1 paper

NM_002529.4

p.P387L

c.1160C>T

2 papers

NM_002529.4

p.P387P

c.1161C>A

1 paper

NM_002529.4

p.P382H

c.1145C>A

6 papers

NM_002529.4

p.E388K

c.1162G>A

2 papers

NM_002529.4

p.D389delFs

c.1166_1167delAC

2 papers

NM_002529.4

p.D389fs

c.1165_1166fs