Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.R253W

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
3 papers
NM_018252.3
p.R253W
c.757C>T
Surrounding Variants
1 paper
NM_018252.3
p.R253R
c.759G>A
1 paper
NM_018252.3
p.E254Q
c.760G>C
1 paper
NM_018252.3
p.D251A
c.752A>C
1 paper
NM_018252.3
p.E250A
c.749A>C
1 paper
NM_018252.3
p.E250Q
c.748G>C
1 paper
NM_018252.3
p.E250K
c.748G>A
1 paper
NM_018252.3
p.V256A
c.767T>C
1 paper
NM_018252.3
p.V256fs
c.766_767fs
1 paper
NM_018252.3
p.E249A
c.746A>C
3 papers
NM_018252.3
p.E257Q
c.769G>C
2 papers
NM_018252.3
p.E257K
c.769G>A
2 papers
NM_018252.3
p.E257A
c.770A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."