Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L1

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
1–12 of 64 variants
3 papers
NM_020725.2
p.S659_S660del1
c.1977_1979delGAG
3 papers
NM_020725.2
p.S661del1
c.1981_1982delGGA
2 papers
NM_020725.2
p.P164L
c.491C>T
2 papers
NM_020725.2
p.M443_D444del1
c.1329_1331delTCC
2 papers
NM_020725.2
p.F535_S536del1
c.1605_1607delCTG
2 papers
NM_020725.2
p.R645delFs
c.1933delT
1 paper
NM_020725.2
p.E25Q
c.73G>C
1 paper
NM_020725.2
p.E66*
c.196G>T
1 paper
NM_020725.2
p.H94R
c.281A>G
1 paper
NM_020725.2
p.N106K
c.318C>G
1 paper
NM_020725.2
p.N106K
c.318C>A
1 paper
NM_020725.2
p.V109I
c.325G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."