Varaico: Literature-Extracted Genetic Variants

Gene:ATMIN
Variant:p.N278S

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
Selected Variant
1 paper
NM_015251.3
p.N278S
c.833A>G
Surrounding Variants
2 papers
NM_015251.3
p.S270S
c.810T>G
1 paper
NM_015251.3
p.S246L
c.737C>T
1 paper
NM_015251.3
p.S240C
c.719C>G
1 paper
NM_015251.3
p.S240P
c.718T>C
1 paper
NM_015251.3
p.K238R
c.713A>G
1 paper
NM_015251.3
p.E364E
c.1092G>A
1 paper
NM_015251.3
p.Q414H
c.1242G>C
1 paper
NM_015251.3
p.Q414H
c.1242G>T
2 papers
NM_015251.3
p.P426P
c.1278T>G
1 paper
NM_015251.3
p.A431A
c.1293C>T
1 paper
NM_015251.3
p.S438S
c.1314G>A
1 paper
NM_015251.3
p.F484V
c.1450T>G
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