Varaico: Literature-Extracted Genetic Variants

Gene:SAC3D1
Variant:p.R306fs

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.R306fs
c.916_917fs
Surrounding Variants
1 paper
NM_013299.4
p.R306*
c.916A>T
1 paper
NM_013299.4
p.R306_V307delFs
c.918_919delAG
1 paper
NM_013299.4
p.E330G
c.989A>G
1 paper
NM_013299.4
p.R336C
c.1006C>T
1 paper
NM_013299.4
p.A264P
c.790G>C
1 paper
NM_013299.4
p.A262T
c.784G>A
4 papers
NM_013299.4
p.R260C
c.778C>T
1 paper
NM_013299.4
p.L238R
c.713T>G
1 paper
NM_013299.4
p.A218E
c.653C>A
1 paper
NM_013299.4
p.A218V
c.653C>T
1 paper
NM_013299.4
p.E199K
c.595G>A
1 paper
NM_013299.4
p.V194A
c.581T>C
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