Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.R188C

PACC1

145 papers

Pfam Domains

TMEM206aa 55–349UCSCTMEM206 protein family
TMEM206aa 55–349UCSCTMEM206 protein family

Gene Aliases

HGNC Name

proton activated chloride channel 1

HGNC Previous Symbols

C1orf75; TMEM206

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018252.3
p.R188C
c.562C>T
Surrounding Variants
1 paper
NM_018252.3
p.R188L
c.563G>T
2 papers
NM_018252.3
p.R188H
c.563G>A
1 paper
NM_018252.3
p.L185I
c.553C>A
1 paper
NM_018252.3
p.E181D
c.543G>T
1 paper
NM_018252.3
p.E181D
c.543G>C
1 paper
NM_018252.3
p.E194A
c.581A>C
1 paper
NM_018252.3
p.E181A
c.542A>C
2 papers
NM_018252.3
p.E181Q
c.541G>C
1 paper
NM_018252.3
p.D195N
c.583G>A
1 paper
NM_018252.3
p.R180Q
c.539G>A
1 paper
NM_018252.3
p.I199T
c.596T>C
1 paper
NM_018252.3
p.E176Q
c.526G>C
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