Varaico: Literature-Extracted Genetic Variants

Gene:PNMA8B
Variant:p.L292F

PNMA8B

32 papers

Pfam Domains

PNMA_Naa 1–92UCSCPNMA N-terminal RRM-like domain

Gene Aliases

HGNC Name

PNMA family member 8B

HGNC Previous Symbol

PNMAL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020709.3
p.L292F
c.876A>T
Surrounding Variants
1 paper
NM_020709.3
p.L292F
c.876A>C
1 paper
NM_020709.3
p.R279C
c.835C>T
2 papers
NM_020709.3
p.V259I
c.775G>A
1 paper
NM_020709.3
p.P250L
c.749C>T
1 paper
NM_020709.3
p.R347delFs
c.1039delG
1 paper
NM_020709.3
p.R347fs
c.1039_1040fs
1 paper
NM_020709.3
p.Q237*
c.709C>T
1 paper
NM_020709.3
p.E349G
c.1046A>G
1 paper
NM_020709.3
p.S355F
c.1064C>T
1 paper
NM_020709.3
p.T226K
c.677C>A
1 paper
NM_020709.3
p.A190S
c.568G>T
1 paper
NM_020709.3
p.S187A
c.559T>G
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