Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.F83C

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.F83C
c.248T>G
Surrounding Variants
1 paper
NM_018252.3
p.V82A
c.245T>C
1 paper
NM_018252.3
p.V82I
c.244G>A
1 paper
NM_018252.3
p.Y86N
c.256T>A
1 paper
NM_018252.3
p.V80V
c.240G>A
1 paper
NM_018252.3
p.V80insFs
c.239_240insC
1 paper
NM_018252.3
p.Y86C
c.257A>G
1 paper
NM_018252.3
p.V80M
c.238G>A
1 paper
NM_018252.3
p.T90K
c.269C>A
1 paper
NM_018252.3
p.D91N
c.271G>A
1 paper
NM_018252.3
p.Y74C
c.221A>G
1 paper
NM_018252.3
p.F92F
c.276T>C
1 paper
NM_018252.3
p.R93C
c.277C>T
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