Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.K617E

SPHKAP

201 papers

Pfam Domains

AKAP_110aa 1587–1699UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

SPHK1 interactor, AKAP domain containing

HGNC Alias Symbol

SKIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001142644.2
p.K617E
c.1849A>G
Surrounding Variants
1 paper
NM_001142644.2
p.G611_E613del3
c.1831_1838del9
1 paper
NM_001142644.2
p.E622K
c.1864G>A
1 paper
NM_001142644.2
p.L610P
c.1829T>C
1 paper
NM_001142644.2
p.A598T
c.1792G>A
1 paper
NM_001142644.2
p.D641N
c.1921G>A
1 paper
NM_001142644.2
p.R645S
c.1935G>T
1 paper
NM_001142644.2
p.R645S
c.1935G>C
1 paper
NM_001142644.2
p.R646I
c.1937G>T
1 paper
NM_001142644.2
p.T650N
c.1949C>A
1 paper
NM_001142644.2
p.S652L
c.1955C>T
1 paper
NM_001142644.2
p.E577fs
c.1729_1730fs
1 paper
NM_001142644.2
p.R576T
c.1727G>C
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