Varaico: Literature-Extracted Genetic Variants

Gene:PACC1

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
1–12 of 152 variants
3 papers
NM_018252.3
p.A27A
c.81A>C
3 papers
NM_018252.3
p.L211fs
c.631_632fs
3 papers
NM_018252.3
p.R253W
c.757C>T
3 papers
NM_018252.3
p.E257Q
c.769G>C
3 papers
NM_018252.3
p.K319E
c.955A>G
2 papers
NM_018252.3
p.H98R
c.293A>G
2 papers
NM_018252.3
p.K106Q
c.316A>C
2 papers
NM_018252.3
p.E107D
c.321A>C
2 papers
NM_018252.3
p.C149ins1
c.446_447insGAA
2 papers
NM_018252.3
p.E181Q
c.541G>C
2 papers
NM_018252.3
p.R188H
c.563G>A
2 papers
NM_018252.3
p.L211delFs
c.631delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."