Varaico: Literature-Extracted Genetic Variants

Gene:PGAP4
Variant:p.R148C

PGAP4

25 papers

Gene Aliases

HGNC Name

post-GPI attachment to proteins GalNAc transferase 4

HGNC Previous Symbols

C9orf125; TMEM246

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032342.3
p.R148C
c.442C>T
Surrounding Variants
1 paper
NM_032342.3
p.R127Q
c.380G>A
1 paper
NM_032342.3
p.G176V
c.527G>T
1 paper
NM_032342.3
p.E185Q
c.553G>C
1 paper
NM_032342.3
p.V109A
c.326T>C
1 paper
NM_032342.3
p.E187fs
c.559_560fs
1 paper
NM_032342.3
p.E187_K188delFs
c.561_562delTC
1 paper
NM_032342.3
p.R99delFs
c.296delC
2 papers
NM_032342.3
p.R99fs
c.295_296fs
1 paper
NM_032342.3
p.R99delFs
c.295delG
2 papers
NM_032342.3
p.R99W
c.295C>T
1 paper
NM_032342.3
p.P84fs
c.250_251fs
1 paper
NM_032342.3
p.E211A
c.632A>C
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