Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.L104R

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.L104R
c.311T>G
Surrounding Variants
1 paper
NM_025087.3
p.S102F
c.305C>T
1 paper
NM_025087.3
p.T110N
c.329C>A
1 paper
NM_025087.3
p.R119Splc
c.356+1G>C
1 paper
NM_025087.3
p.A82D
c.245C>A
1 paper
NM_025087.3
p.R119Splc
c.356+91T>C
1 paper
NM_025087.3
p.R122K
c.365G>A
1 paper
NM_025087.3
p.I131I
c.393T>A
1 paper
NM_025087.3
p.R137H
c.410G>A
1 paper
NM_025087.3
p.I138I
c.414A>T
1 paper
NM_025087.3
p.W139*
c.416G>A
1 paper
NM_025087.3
p.W139*
c.417G>A
1 paper
NM_025087.3
p.N144Y
c.430A>T
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