Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.T260I

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
3 papers
NM_025087.3
p.T260I
c.779C>T
Surrounding Variants
1 paper
NM_001286791.2
p.L218L
c.654G>A
1 paper
NM_025087.3
p.P228L
c.683C>T
1 paper
NM_025087.3
p.V216V
c.648C>T
1 paper
NM_025087.3
p.G188R
c.562G>A
1 paper
NM_025087.3
p.G188R
c.562G>C
1 paper
NM_025087.3
p.E178Q
c.532G>C
1 paper
NM_025087.3
p.K176N
c.528A>T
1 paper
NM_025087.3
p.C174F
c.521G>T
1 paper
NM_025087.3
p.D171Splc
c.512-1G>T
1 paper
NM_025087.3
p.I292T
c.875T>C
1 paper
NM_025087.3
p.Y323H
c.967T>C
1 paper
NM_025087.3
p.E347K
c.1039G>A
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