Varaico: Literature-Extracted Genetic Variants

Gene:ATMIN

ATMIN

46 papers

Pfam Domains

C2H2_ASCIZaa 83–112UCSCASCIZ first and second C2H2 zinc finger domains
C2H2_ASCIZaa 130–163UCSCASCIZ first and second C2H2 zinc finger domains
C2HC_ASCIZaa 164–188UCSCASCIZ third C2HC zinc finger domain
C2H2_ASCIZ_4thaa 190–220UCSCASCIZ forth C2H2 zinc finger domain

Gene Aliases

HGNC Name

ATM interactor

HGNC Alias Symbols

ASCIZ; KIAA0431; ZNF822

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
3 papers
NM_015251.3
p.V521I
c.1561G>A
3 papers
NM_015251.3
p.G721V
c.2162G>T
2 papers
NM_015251.3
p.S270S
c.810T>G
2 papers
NM_015251.3
p.P426P
c.1278T>G
2 papers
NM_015251.3
p.A604A
c.1812T>C
1 paper
NM_015251.3
p.E5ins1
c.14_15insGGC
1 paper
NM_015251.3
p.A6_A7insFs
c.18_19insA
1 paper
NM_015251.3
p.A10G
c.29C>G
1 paper
NM_015251.3
p.A14_L15insGGC
c.40_44ins9
1 paper
NM_015251.3
p.P36L
c.107C>T
1 paper
NM_015251.3
p.A54T
c.160G>A
1 paper
NM_015251.3
p.S72S
c.216G>C
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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."