Varaico: Literature-Extracted Genetic Variants

Gene:SPDYE1
Variant:p.S278A

SPDYE1

11 papers

RefSeq Summary

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008].

Pfam Domains

Spy1aa 153–273UCSCCell cycle regulatory protein
Spy1aa 279–332UCSCCell cycle regulatory protein

Gene Aliases

HGNC Name

speedy/RINGO cell cycle regulator family member E1

HGNC Previous Symbol

WBSCR19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378423.2
p.S278A
c.832T>G
Surrounding Variants
1 paper
NM_001378423.2
p.R287W
c.859C>T
1 paper
NM_001378423.2
p.Q329Q
c.987G>A
1 paper
NM_001378423.2
p.R244H
c.731G>A
1 paper
NM_001378423.2
p.G129R
c.385G>A
1 paper
NM_001378423.2
p.G129R
c.385G>C
1 paper
NM_001378423.2
p.T93S
c.278C>G
1 paper
NM_001378423.2
p.E85_T93delFs
c.253_278del26
1 paper
NM_001378423.2
p.R64W
c.190A>T
1 paper
NM_001378423.2
p.E43E
c.129G>A
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