Varaico: Literature-Extracted Genetic Variants

Gene:ATMIN
Variant:p.A604A

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
2 papers
NM_015251.3
p.A604A
c.1812T>C
Surrounding Variants
1 paper
NM_015251.3
p.I597insFs
c.1790dupT
1 paper
NM_015251.3
p.S643L
c.1928C>T
1 paper
NM_015251.3
p.M659I
c.1977G>A
1 paper
NM_015251.3
p.L677L
c.2031A>G
1 paper
NM_015251.3
p.A528T
c.1582G>A
3 papers
NM_015251.3
p.V521I
c.1561G>A
1 paper
NM_015251.3
p.S715S
c.2145C>T
3 papers
NM_015251.3
p.G721V
c.2162G>T
1 paper
NM_015251.3
p.F484V
c.1450T>G
1 paper
NM_015251.3
p.S736C
c.2207C>G
1 paper
NM_015251.3
p.D737N
c.2209G>A
1 paper
NM_015251.3
p.S769R
c.2305A>C
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