Varaico: Literature-Extracted Genetic Variants

Gene:CYTH1
Variant:p.L30P

CYTH1

36 papers

RefSeq Summary

The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, ...

Pfam Domains

Sec7aa 62–244UCSCSec7 domain
PHaa 261–377UCSCPH domain

Gene Aliases

HGNC Name

cytohesin 1

HGNC Previous Symbol

PSCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004762.6
p.L30P
c.89T>C
Surrounding Variants
1 paper
NM_004762.6
p.N22K
c.66C>G
1 paper
NM_004762.6
p.N22K
c.66C>A
1 paper
NM_004762.6
p.E19E
c.57A>G
2 papers
NM_004762.6
p.N46D
c.136A>G
1 paper
NM_004762.6
p.F73L
c.217T>C
1 paper
NM_004762.6
p.F73L
c.219T>G
1 paper
NM_004762.6
p.F73L
c.219T>A
1 paper
NM_004762.6
p.G104V
c.311G>T
1 paper
NM_004762.6
p.G117E
c.350G>A
1 paper
NM_004762.6
p.H134D
c.400C>G
1 paper
NM_004762.6
p.V142F
c.424G>T
1 paper
NM_004762.6
p.V142I
c.424G>A
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