Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.Q639P

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
Selected Variant
1 paper
NM_025087.3
p.Q639P
c.1916A>C
Surrounding Variants
2 papers
NM_025087.3
p.Q639R
c.1916A>G
1 paper
NM_025087.3
p.L633M
c.1897C>A
1 paper
NM_025087.3
p.A626V
c.1877C>T
2 papers
NM_025087.3
p.H662N
c.1984C>A
1 paper
NM_025087.3
p.I669delFs
c.2005delA
1 paper
NM_025087.3
p.K668_I669delFs
c.2004_2005delAA
1 paper
NM_025087.3
p.H670Y
c.2008C>T
1 paper
NM_025087.3
p.R618*
c.1852C>T
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