Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C
Variant:p.W406delFs

TMEM63C

55 papers

Pfam Domains

RSN1_TMaa 38–206UCSCLate exocytosis, associated with Golgi transport
PHM7_cytaa 219–398UCSCCytosolic domain of 10TM putative phosphate transporter
RSN1_7TMaa 409–682UCSCCalcium-dependent channel, 7TM region, putative phosphate

Gene Aliases

HGNC Name

transmembrane protein 63C

HGNC Previous Symbol

C14orf171

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020431.4
p.W406delFs
c.1216delT
Surrounding Variants
3 papers
NM_020431.4
p.W406fs
c.1216_1217fs
1 paper
NM_020431.4
p.R402H
c.1205G>A
2 papers
NM_020431.4
p.R402C
c.1204C>T
1 paper
NM_020431.4
p.R441H
c.1322G>A
1 paper
NM_020431.4
p.T376I
c.1127C>T
1 paper
NM_020431.4
p.Q371*
c.1111C>T
1 paper
NM_020431.4
p.V367M
c.1099G>A
1 paper
NM_020431.4
p.P468L
c.1403C>T
1 paper
NM_020431.4
p.S474F
c.1421C>T
1 paper
NM_020431.4
p.L477L
c.1431C>T
1 paper
NM_020431.4
p.E478K
c.1432G>A
1 paper
NM_020431.4
p.P336L
c.1007C>T
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."