Varaico: Literature-Extracted Genetic Variants

Gene:PPAN
Variant:p.M1I

PPAN

99 papers

RefSeq Summary

The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in th...

Pfam Domains

Brixaa 36–285UCSCBrix domain

Gene Aliases

HGNC Name

peter pan homolog

HGNC Alias Symbols

SSF1; SSF2; SSF; BXDC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020230.7
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_020230.7
p.M1I
c.3G>C
1 paper
NM_020230.7
p.G2Fs
c.4delinsGTFs
1 paper
NM_020230.7
p.M1K
c.2T>A
2 papers
NM_020230.7
p.M1T
c.2T>C
1 paper
NM_020230.7
p.G2E
c.5G>A
3 papers
NM_020230.7
p.G2V
c.5G>T
1 paper
NM_020230.7
p.Q16*
c.46C>T
1 paper
NM_020230.7
p.R20G
c.58C>G
1 paper
NM_020230.7
p.R20H
c.59G>A
1 paper
NM_020230.7
p.L22L
c.66C>G
1 paper
NM_020230.7
p.A27A
c.81G>A
1 paper
NM_020230.7
p.A27A
c.81G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."