Varaico: Literature-Extracted Genetic Variants

Gene:PAXBP1
Variant:p.K583R

PAXBP1

48 papers

Pfam Domains

GCFCaa 595–810UCSCGC-rich sequence DNA-binding factor-like protein

Gene Aliases

HGNC Name

PAX3 and PAX7 binding protein 1

HGNC Previous Symbols

C21orf66; GCFC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016631.4
p.K583R
c.1748A>G
Surrounding Variants
1 paper
NM_016631.4
p.K614E
c.1840A>G
3 papers
NM_016631.4
p.R538C
c.1612C>T
1 paper
NM_016631.4
p.A534A
c.1602C>G
1 paper
NM_016631.4
p.R527H
c.1580G>A
1 paper
NM_016631.4
p.L506L
c.1518G>A
1 paper
NM_016631.4
p.G660C
c.1978G>T
2 papers
NM_016631.4
p.R664*
c.1990C>T
1 paper
NM_016631.4
p.M695T
c.2084T>C
1 paper
NM_016631.4
p.I710M
c.2130T>G
2 papers
NM_016631.4
p.S720A
c.2158T>G
1 paper
NM_016631.4
p.Q730_V731Splc
c.2191-34T>C
1 paper
NM_016631.4
p.Q730_V731Splc
c.2191-1G>T
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