Varaico: Literature-Extracted Genetic Variants

Gene:BLTP3A
Variant:p.P543L

BLTP3A

107 papers

Pfam Domains

BLTP3A_Baa 1–1435UCSCBridge-like lipid transfer protein family member 3A/B

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 3A

HGNC Previous Symbols

C6orf107; UHRF1BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017754.4
p.P543L
c.1628C>T
Surrounding Variants
2 papers
NM_017754.4
p.R558C
c.1672C>T
1 paper
NM_017754.4
p.R558H
c.1673G>A
1 paper
NM_017754.4
p.T490I
c.1469C>T
2 papers
NM_017754.4
p.H645H
c.1935T>C
1 paper
NM_017754.4
p.H650Y
c.1948C>T
1 paper
NM_017754.4
p.P679L
c.2036C>T
1 paper
NM_017754.4
p.P687S
c.2059C>T
1 paper
NM_017754.4
p.S690T
c.2068T>A
1 paper
NM_017754.4
p.P721delFs
c.2163delC
1 paper
NM_017754.4
p.F722fs
c.2164_2165fs
1 paper
NM_017754.4
p.P723L
c.2168C>T
1 paper
NM_017754.4
p.I726V
c.2176A>G
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