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.P201T

c.601C>A

Surrounding Variants

1 paper

NM_002529.4

p.P201S

c.601C>T

1 paper

NM_002529.4

p.P201H

c.602C>A

1 paper

NM_002529.4

p.P201delFs

c.603delC

1 paper

NM_002529.4

p.N202delFs

c.605delA

1 paper

NM_002529.4

p.V200G

c.599T>G

1 paper

NM_002529.4

p.N202fs

c.604_605fs

1 paper

NM_002529.4

p.V200M

c.598G>A

1 paper

NM_002529.4

p.V200L

c.598G>C

1 paper

NM_002529.4

p.V200L

c.598G>T

1 paper

NM_002529.4

p.Q199P

c.596A>C

1 paper

NM_002529.4

p.Q199*

c.595C>T

1 paper

NM_002529.4

p.V198fs

c.592_593fs