Varaico: Literature-Extracted Genetic Variants

Gene:PAXBP1
Variant:p.G166V

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.G166V
c.497G>T
Surrounding Variants
1 paper
NM_016631.4
p.S158Splc
c.473-1G>C
1 paper
NM_016631.4
p.E184delFs
c.552delT
1 paper
NM_016631.4
p.I219M
c.657T>G
1 paper
NM_016631.4
p.R232H
c.695G>A
1 paper
NM_016631.4
p.R272W
c.814C>T
1 paper
NM_016631.4
p.S281L
c.842C>T
1 paper
NM_016631.4
p.A299V
c.896C>T
1 paper
NM_016631.4
p.Q314*
c.940C>T
1 paper
NM_016631.4
p.G320R
c.958G>C
1 paper
NM_016631.4
p.G320R
c.958G>A
1 paper
NM_016631.4
p.T373A
c.1117A>G
1 paper
NM_016631.4
p.V386I
c.1156G>A
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