Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD42
Variant:p.M1I

ANKRD42

25 papers

Pfam Domains

Ank_2aa 30–123UCSCAnkyrin repeats (3 copies)
Ank_2aa 103–189UCSCAnkyrin repeats (3 copies)
Ank_2aa 112–193UCSCAnkyrin repeats (3 copies)
Ank_2aa 117–188UCSCAnkyrin repeats (3 copies)
Ankaa 191–220UCSCAnkyrin repeat
Ank_2aa 269–362UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 42

HGNC Alias Symbols

FLJ37874; SARP; PPP1R79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001300975.2
p.M1I
c.3G>C
Surrounding Variants
1 paper
NM_001300975.2
p.M1I
c.3G>A
1 paper
NM_001300975.2
p.M1I
c.3G>T
1 paper
NM_001300975.2
p.P2S
c.4C>T
1 paper
NM_001300975.2
p.T16insFs
c.46_47insT
1 paper
NM_001300975.2
p.C20Splc
c.59-4A>G
1 paper
NM_001300975.2
p.R35Q
c.104G>A
1 paper
NM_001300975.2
p.V57D
c.170T>A
1 paper
NM_001300975.2
p.W66ins5
c.196_197ins15
1 paper
NM_001300975.2
p.E74_C75Splc
c.222+5G>A
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