Varaico: Literature-Extracted Genetic Variants

Gene:TXLNG
Variant:p.F244L

TXLNG

38 papers

RefSeq Summary

This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle ...

Pfam Domains

Taxilinaa 137–444UCSCMyosin-like coiled-coil protein

Gene Aliases

HGNC Name

taxilin gamma

HGNC Previous Symbol

CXorf15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018360.3
p.F244L
c.730T>C
Surrounding Variants
1 paper
NM_018360.3
p.F244L
c.732C>A
1 paper
NM_018360.3
p.F244L
c.732C>G
2 papers
NM_018360.3
p.I246V
c.736A>G
1 paper
NM_018360.3
p.I280V
c.838A>G
1 paper
NM_018360.3
p.A204S
c.610G>T
1 paper
NM_018360.3
p.E197*
c.589G>T
1 paper
NM_018360.3
p.Q195Q
c.585G>A
1 paper
NM_018360.3
p.K191delFs
c.572_573delAA
1 paper
NM_018360.3
p.A185V
c.554C>T
1 paper
NM_018360.3
p.S172N
c.515G>A
1 paper
NM_018360.3
p.S172fs
c.514_515fs
1 paper
NM_018360.3
p.S172_V173delFs
c.515_519del5
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