Varaico: Literature-Extracted Genetic Variants

Gene:CWH43

CWH43

68 papers

Pfam Domains

6TM_1st_PGAP2IPaa 16–166UCSCPGAP2IP, first transmembrane domain
6TM_2nd_PGAP2IPaa 191–373UCSCPGAP2IP, second transmembrane domain
Exo_endo_phos_PGAP2IPaa 425–670UCSCPGAP2IP, C-terminal nuclease-like domain

Gene Aliases

HGNC Name

cell wall biogenesis 43 C-terminal homolog

HGNC Alias Symbols

FLJ21511; CWH43-C; PGAP2IP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
6 papers
NM_025087.3
p.L533*
c.1598T>A
5 papers
NM_025087.3
p.H689N
c.2065C>A
3 papers
NM_025087.3
p.T260I
c.779C>T
3 papers
NM_025087.3
p.T532delFs
c.1596delA
2 papers
NM_025087.3
p.I57S
c.170T>G
2 papers
NM_025087.3
p.N441D
c.1321A>G
2 papers
NM_025087.3
p.Q639R
c.1916A>G
2 papers
NM_025087.3
p.H662N
c.1984C>A
2 papers
NM_025087.3
p.K696fs
c.2086_2087fs
2 papers
NM_025087.3
p.K696fs
c.2086_2087fs
1 paper
NM_025087.3
p.P2T
c.4C>A
1 paper
NM_025087.3
p.V17D
c.50T>A
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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."