Varaico: Literature-Extracted Genetic Variants

Gene:XAB2
Variant:p.D253N

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
1 paper
NM_020196.3
p.D253N
c.757G>A
Surrounding Variants
1 paper
NM_020196.3
p.R250H
c.749G>A
1 paper
NM_020196.3
p.T249T
c.747C>A
2 papers
NM_020196.3
p.D264N
c.790G>A
1 paper
NM_020196.3
p.G270D
c.809G>A
1 paper
NM_020196.3
p.E273K
c.817G>A
1 paper
NM_020196.3
p.K274_A275Splc
c.822+16C>T
1 paper
NM_020196.3
p.K215N
c.645G>T
1 paper
NM_020196.3
p.K215N
c.645G>C
1 paper
NM_020196.3
p.F209F
c.627C>T
1 paper
NM_020196.3
p.E207K
c.619G>A
1 paper
NM_020196.3
p.A197T
c.589G>A
1 paper
NM_020196.3
p.R157P
c.470G>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."