Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L1
Variant:p.P534_S536del0

ATXN7L1

57 papers

Pfam Domains

SCA7aa 277–345UCSCSCA7, zinc-binding domain

Gene Aliases

HGNC Name

ataxin 7 like 1

HGNC Previous Symbol

ATXN7L4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020725.2
p.P534_S536del0
c.1602_1607del6
Surrounding Variants
1 paper
NM_020725.2
p.F535_S536del2
c.1603_1607del6
1 paper
NM_020725.2
p.P534_S536del3
c.1600_1607del9
2 papers
NM_020725.2
p.F535_S536del1
c.1605_1607delCTG
1 paper
NM_020725.2
p.S539delFs
c.1617delA
1 paper
NM_020725.2
p.S545L
c.1634C>T
1 paper
NM_020725.2
p.V527A
c.1580T>C
1 paper
NM_020725.2
p.S564L
c.1691C>T
1 paper
NM_020725.2
p.N565D
c.1693A>G
1 paper
NM_020725.2
p.A576T
c.1726G>A
1 paper
NM_020725.2
p.A603V
c.1808C>T
1 paper
NM_020725.2
p.V610V
c.1830C>T
1 paper
NM_020725.2
p.K617fs
c.1849_1850fs
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