Varaico: Literature-Extracted Genetic Variants

Gene:XAB2
Variant:p.E26K

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.E26K
c.76G>A
Surrounding Variants
1 paper
NM_020196.3
p.E27V
c.80A>T
1 paper
NM_020196.3
p.F33L
c.97T>C
1 paper
NM_020196.3
p.F33L
c.99C>G
1 paper
NM_020196.3
p.F33L
c.99C>A
1 paper
NM_020196.3
p.I42F
c.124A>T
1 paper
NM_020196.3
p.A48T
c.142G>A
1 paper
NM_020196.3
p.R73*
c.217C>T
2 papers
NM_020196.3
p.D89A
c.266A>C
1 paper
NM_020196.3
p.K108E
c.322A>G
1 paper
NM_020196.3
p.K108_M109Splc
c.324+11C>T
1 paper
NM_020196.3
p.D122A
c.365A>C
1 paper
NM_020196.3
p.V126I
c.376G>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."