Varaico: Literature-Extracted Genetic Variants

NTRK3

674 papers

RefSeq Summary

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of th...

Pfam Domains

LRRNTaa 31–58UCSCLeucine rich repeat N-terminal domain

LRR_8aa 103–162UCSCLeucine rich repeat

LRRCT_2aa 163–208UCSCLeucine rich repeat C-terminal motif

igaa 217–297UCSCImmunoglobulin domain

I-setaa 316–392UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 440–617UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 3

HGNC Alias Symbol

TRKC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001012338.3

p.D584N

c.1750G>A

Surrounding Variants

1 paper

NM_001012338.3

p.K583N

c.1749G>T

1 paper

NM_001012338.3

p.K583N

c.1749G>C

2 papers

NM_001012338.3

p.D584E

c.1752T>G

2 papers

NM_001012338.3

p.D584E

c.1752T>A

2 papers

NM_001012338.3

p.R582Q

c.1745G>A

5 papers

NM_001012338.3

p.R582W

c.1744C>T

3 papers

NM_001012338.3

p.Q586*

c.1756C>T

2 papers

NM_001012338.3

p.Q586K

c.1756C>A

1 paper

NM_001012338.3

p.A580P

c.1738G>C

1 paper

NM_001012338.3

p.E588A

c.1763A>C

1 paper

NM_001012338.3

p.A589T

c.1765G>A

1 paper

NM_001012338.3

p.L579M

c.1735C>A