Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.E685K

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.E685K
c.2053G>A
Surrounding Variants
5 papers
NM_025087.3
p.H689N
c.2065C>A
1 paper
NM_025087.3
p.H691Y
c.2071C>T
1 paper
NM_025087.3
p.P695S
c.2083C>T
1 paper
NM_025087.3
p.P695_K696delFs
c.2085_2086delCA
2 papers
NM_025087.3
p.K696delFs
c.2088delA
NM_001286791.2
p.K669delFs
c.2005delA
3 papers
NM_001286791.2
p.K669fs
c.2005_2006fs
NM_025087.3
p.K696fs
c.2086_2087fs
2 papers
NM_025087.3
p.K696fs
c.2086_2087fs
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