Varaico: Literature-Extracted Genetic Variants

Gene:VIPAS39
Variant:p.L463_L464del2

VIPAS39

74 papers

Pfam Domains

Vps16_Caa 164–305UCSCVps16, C-terminal region

Gene Aliases

HGNC Name

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

HGNC Previous Symbol

C14orf133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001193315.2
p.L463_L464del2
c.1387_1391del6
Surrounding Variants
1 paper
NM_001193315.2
p.R460C
c.1378C>T
4 papers
NM_001193315.2
p.L484F
c.1450C>T
1 paper
NM_001193315.2
p.S485R
c.1453A>C
1 paper
NM_001193315.2
p.S485R
c.1455C>G
1 paper
NM_001193315.2
p.S485R
c.1455C>A
1 paper
NM_001193315.2
p.V450I
c.1348G>A
1 paper
NM_001193315.2
p.L440_V449del10
c.1318_1346del30
1 paper
NM_001193315.2
p.E426*
c.1276G>T
4 papers
NM_001193315.2
p.Q425*
c.1273C>T
3 papers
NM_001193315.2
p.R490*
c.1468C>T
1 paper
NM_001193315.2
p.K492insFs
c.1474dupA
1 paper
NM_001193315.2
p.V410V
c.1230T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."