Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L1
Variant:p.S721L

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.S721L
c.2162C>T
Surrounding Variants
1 paper
NM_020725.2
p.P723H
c.2168C>A
1 paper
NM_020725.2
p.G734G
c.2202C>T
1 paper
NM_020725.2
p.P744L
c.2231C>T
1 paper
NM_020725.2
p.Y695C
c.2084A>G
1 paper
NM_020725.2
p.A692G
c.2075C>G
1 paper
NM_020725.2
p.A751V
c.2252C>T
1 paper
NM_020725.2
p.A754T
c.2260G>A
1 paper
NM_020725.2
p.S688F
c.2063C>T
1 paper
NM_020725.2
p.E776K
c.2326G>A
3 papers
NM_020725.2
p.S661del1
c.1981_1982delGGA
3 papers
NM_020725.2
p.S659_S660del1
c.1977_1979delGAG
1 paper
NM_020725.2
p.S658_S660del0
c.1974_1979del6
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