Varaico: Literature-Extracted Genetic Variants

Gene:CACTIN
Variant:p.R639W

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
2 papers
NM_001080543.2
p.R639W
c.1915C>T
Surrounding Variants
1 paper
NM_001080543.2
p.R641H
c.1922G>A
1 paper
NM_001080543.2
p.R644H
c.1931G>A
1 paper
NM_001080543.2
p.E624D
c.1872G>T
1 paper
NM_001080543.2
p.E624D
c.1872G>C
1 paper
NM_001080543.2
p.T661M
c.1982C>T
1 paper
NM_001080543.2
p.D664N
c.1990G>A
2 papers
NM_001080543.2
p.R609L
c.1826G>T
1 paper
NM_001080543.2
p.D687N
c.2059G>A
1 paper
NM_001080543.2
p.D687delFs
c.2061delG
1 paper
NM_001080543.2
p.R689C
c.2065C>T
1 paper
NM_001080543.2
p.R689H
c.2066G>A
1 paper
NM_001080543.2
p.T691M
c.2072C>T
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