Varaico: Literature-Extracted Genetic Variants

Gene:PNMA8B
Variant:p.E473A

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.E473A
c.1418A>C
Surrounding Variants
1 paper
NM_020709.3
p.A453A
c.1359G>A
1 paper
NM_020709.3
p.N500N
c.1500C>T
1 paper
NM_020709.3
p.D444N
c.1330G>A
1 paper
NM_020709.3
p.D517N
c.1549G>A
1 paper
NM_020709.3
p.E519K
c.1555G>A
1 paper
NM_020709.3
p.T540P
c.1618A>C
1 paper
NM_020709.3
p.A541T
c.1621G>A
1 paper
NM_020709.3
p.V401I
c.1201G>A
1 paper
NM_020709.3
p.R569_G570ins2
c.1707_1708ins6
1 paper
NM_020709.3
p.R569R
c.1707G>A
1 paper
NM_020709.3
p.S355F
c.1064C>T
1 paper
NM_020709.3
p.E349G
c.1046A>G
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