Varaico: Literature-Extracted Genetic Variants

Gene:CACTIN
Variant:p.R589C

CACTIN

50 papers

Pfam Domains

Cactin_midaa 270–457UCSCConserved mid region of cactin
CactinC_cactusaa 634–758UCSCCactus-binding C-terminus of cactin protein

Gene Aliases

HGNC Name

cactin, spliceosome C complex subunit

HGNC Previous Symbol

C19orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080543.2
p.R589C
c.1765C>T
Surrounding Variants
2 papers
NM_001080543.2
p.R584H
c.1751G>A
1 paper
NM_001080543.2
p.R584C
c.1750C>T
1 paper
NM_001080543.2
p.G537_A539ins1
c.1610_1615dup6
1 paper
NM_001080543.2
p.E516*
c.1546G>T
1 paper
NM_001080543.2
p.P501L
c.1502C>T
2 papers
NM_001080543.2
p.A499V
c.1496C>T
1 paper
NM_001080543.2
p.P490T
c.1468C>A
1 paper
NM_001080543.2
p.E486K
c.1456G>A
1 paper
NM_001080543.2
p.P478P
c.1434G>A
1 paper
NM_001080543.2
p.R456H
c.1367G>A
2 papers
NM_001080543.2
p.R609L
c.1826G>T
1 paper
NM_001080543.2
p.E624D
c.1872G>T
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