Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.G475R

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.G475R
c.1423G>A
Surrounding Variants
1 paper
NM_025087.3
p.G475R
c.1423G>C
1 paper
NM_025087.3
p.M474I
c.1422G>A
1 paper
NM_025087.3
p.M474I
c.1422G>C
1 paper
NM_025087.3
p.M474I
c.1422G>T
1 paper
NM_025087.3
p.A469S
c.1405G>T
1 paper
NM_025087.3
p.W482*
c.1445G>A
1 paper
NM_025087.3
p.W482*
c.1446G>A
1 paper
NM_025087.3
p.L483delFs
c.1449delA
1 paper
NM_025087.3
p.D492N
c.1474G>A
1 paper
NM_025087.3
p.M505delFs
c.1514_1515delTG
1 paper
NM_025087.3
p.P511Q
c.1532C>A
1 paper
NM_025087.3
p.A528T
c.1582G>A
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