Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.H131R

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.H131R
c.392A>G
Surrounding Variants
1 paper
NM_018252.3
p.H130R
c.389A>G
1 paper
NM_018252.3
p.E133Q
c.397G>C
1 paper
NM_018252.3
p.K129*
c.385A>T
1 paper
NM_018252.3
p.S127N
c.380G>A
1 paper
NM_018252.3
p.P137P
c.411T>C
1 paper
NM_018252.3
p.L138R
c.413T>G
1 paper
NM_018252.3
p.Q124*
c.370C>T
1 paper
NM_018252.3
p.L118W
c.353T>G
2 papers
NM_018252.3
p.C149ins1
c.446_447insGAA
1 paper
NM_018252.3
p.D158N
c.472G>A
1 paper
NM_018252.3
p.N162S
c.485A>G
1 paper
NM_018252.3
p.D112_A113delFs
c.336_337delCA
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