Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.S205Y

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.S205Y
c.614C>A
Surrounding Variants
1 paper
NM_018252.3
p.S205T
c.613T>A
1 paper
NM_018252.3
p.S206Y
c.617C>A
1 paper
NM_018252.3
p.E209Q
c.625G>C
1 paper
NM_018252.3
p.E209A
c.626A>C
1 paper
NM_018252.3
p.D200A
c.599A>C
1 paper
NM_018252.3
p.L211M
c.631C>A
1 paper
NM_018252.3
p.I199T
c.596T>C
2 papers
NM_018252.3
p.L211delFs
c.631delG
3 papers
NM_018252.3
p.L211fs
c.631_632fs
1 paper
NM_018252.3
p.S213N
c.638G>A
1 paper
NM_018252.3
p.S213Splc
c.638+1G>A
1 paper
NM_018252.3
p.D195N
c.583G>A
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