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.E581G

c.1742A>G

Surrounding Variants

1 paper

NM_002529.4

p.E581K

c.1741G>A

1 paper

NM_002529.4

p.G582S

c.1744G>A

1 paper

NM_002529.4

p.C579_T580insFs

c.1737_1738ins7

1 paper

NM_002529.4

p.R583G

c.1747C>G

NM_001012331.2

p.R577G

c.1729C>G

2 papers

NM_002529.4

p.R583C

c.1747C>T

1 paper

NM_002529.4

p.L585delFs

c.1753delC

1 paper

NM_001012331.2

p.C573_M586delFs

c.1717_1756del40

1 paper

NM_002529.4

p.P584L

c.1751C>T

1 paper

NM_002529.4

p.V578insFs

c.1733_1734insC

2 papers

NM_002529.4

p.P584P

c.1752C>T

1 paper

NM_002529.4

p.L585M

c.1753C>A

2 papers

NM_002529.4

p.L585fs

c.1753_1754fs