Varaico: Literature-Extracted Genetic Variants

Gene:XAB2
Variant:p.Y596*

XAB2

91 papers

Pfam Domains

HAT_Syf1_CNRKL1_Naa 20–178UCSCPre-mRNA-splicing factor Syf1/CNRKL1 N-terminal HAT repeat
HAT_Syf1_Maa 180–385UCSCPre-mRNA-splicing factor SYF1 middle HAT repeat
HAT_Syf1_CNRKL1_Caa 387–783UCSCPre-mRNA-splicing factor Syf1/CRNKL1 C-terminal HAT repeat

Gene Aliases

HGNC Name

XPA binding protein 2

HGNC Alias Symbols

HCNP; HCRN; SYF1; NTC90

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020196.3
p.Y596*
c.1788C>A
Surrounding Variants
2 papers
NM_020196.3
p.Y596*
c.1788C>G
1 paper
NM_020196.3
p.L597R
c.1790T>G
1 paper
NM_020196.3
p.T594A
c.1780A>G
1 paper
NM_020196.3
p.A614S
c.1840G>T
1 paper
NM_020196.3
p.E617K
c.1849G>A
1 paper
NM_020196.3
p.Q627R
c.1880A>G
1 paper
NM_020196.3
p.Q628*
c.1882C>T
1 paper
NM_020196.3
p.T594A
c.1780A>G
1 paper
NM_020196.3
p.N633S
c.1898A>G
1 paper
NM_020196.3
p.R577L
c.1730G>T
1 paper
NM_020196.3
p.R575P
c.1724G>C
1 paper
NM_020196.3
p.R575Q
c.1724G>A
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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."