Varaico: Literature-Extracted Genetic Variants

Gene:PAXBP1
Variant:p.L809L

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.L809L
c.2427C>G
Surrounding Variants
1 paper
NM_016631.4
p.M810V
c.2428A>G
1 paper
NM_016631.4
p.I822N
c.2465T>A
1 paper
NM_016631.4
p.D861G
c.2582A>G
1 paper
NM_016631.4
p.A898V
c.2693C>T
1 paper
NM_016631.4
p.M899V
c.2695A>G
1 paper
NM_016631.4
p.F768Y
c.2303T>A
1 paper
NM_016631.4
p.L767F
c.2301G>T
1 paper
NM_016631.4
p.L767F
c.2301G>C
1 paper
NM_016631.4
p.Q730_V731Splc
c.2191-1G>T
1 paper
NM_016631.4
p.Q730_V731Splc
c.2191-34T>C
2 papers
NM_016631.4
p.S720A
c.2158T>G
1 paper
NM_016631.4
p.I710M
c.2130T>G
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