Varaico: Literature-Extracted Genetic Variants

Gene:SAC3D1
Variant:p.R44L

SAC3D1

33 papers

Pfam Domains

SAC3_GANPaa 14–202UCSCSAC3/GANP family

Gene Aliases

HGNC Name

SAC3 domain containing 1

HGNC Alias Symbols

HSU79266; SHD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013299.4
p.R44L
c.131G>T
Surrounding Variants
1 paper
NM_013299.4
p.D46delFs
c.136_137delGA
1 paper
NM_013299.4
p.P47fs
c.139_140fs
1 paper
NM_013299.4
p.P36S
c.106C>T
1 paper
NM_013299.4
p.R56*
c.166C>T
1 paper
NM_013299.4
p.R56P
c.167G>C
1 paper
NM_013299.4
p.H30Y
c.88C>T
1 paper
NM_013299.4
p.H30delFs
c.88_89delCA
1 paper
NM_013299.4
p.R25R
c.73A>C
1 paper
NM_013299.4
p.R25G
c.73A>G
1 paper
NM_013299.4
p.P65Q
c.194C>A
1 paper
NM_013299.4
p.Q22P
c.65A>C
1 paper
NM_013299.4
p.R20H
c.59G>A
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