Varaico: Literature-Extracted Genetic Variants

Gene:XAB2
Variant:p.C691R

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.C691R
c.2071T>C
Surrounding Variants
1 paper
NM_020196.3
p.A684_A686delFs
c.2050_2057del8
1 paper
NM_020196.3
p.R683C
c.2047C>T
1 paper
NM_020196.3
p.C668F
c.2003G>T
1 paper
NM_020196.3
p.E666K
c.1996G>A
1 paper
NM_020196.3
p.A664T
c.1990G>A
1 paper
NM_020196.3
p.T706M
c.2117C>T
1 paper
NM_020196.3
p.R713W
c.2137C>T
1 paper
NM_020196.3
p.E717K
c.2149G>A
1 paper
NM_020196.3
p.I726M
c.2178C>G
1 paper
NM_020196.3
p.R728H
c.2183G>A
1 paper
NM_020196.3
p.S743L
c.2228C>T
1 paper
NM_020196.3
p.S749L
c.2246C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."