Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.M101L

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.M101L
c.301A>C
Surrounding Variants
1 paper
NM_018252.3
p.S102S
c.306T>C
1 paper
NM_018252.3
p.S102S
c.306T>A
1 paper
NM_018252.3
p.V103A
c.308T>C
1 paper
NM_018252.3
p.V103E
c.308T>A
2 papers
NM_018252.3
p.H98R
c.293A>G
1 paper
NM_018252.3
p.K97Q
c.289A>C
2 papers
NM_018252.3
p.K106Q
c.316A>C
1 paper
NM_018252.3
p.K106N
c.318G>T
1 paper
NM_018252.3
p.K106N
c.318G>C
1 paper
NM_018252.3
p.E107Q
c.319G>C
1 paper
NM_018252.3
p.E107A
c.320A>C
2 papers
NM_018252.3
p.E107D
c.321A>C
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