Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.H848Y

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
1 paper
NM_001142644.2
p.H848Y
c.2542C>T
Surrounding Variants
3 papers
NM_001142644.2
p.H847Q
c.2541T>G
3 papers
NM_001142644.2
p.H847Q
c.2541T>A
1 paper
NM_001142644.2
p.S849N
c.2546G>A
1 paper
NM_001142644.2
p.K844N
c.2532A>T
1 paper
NM_001142644.2
p.K844N
c.2532A>C
1 paper
NM_001142644.2
p.E852*
c.2554G>T
1 paper
NM_001142644.2
p.T864M
c.2591C>T
2 papers
NM_001142644.2
p.Q867R
c.2600A>G
2 papers
NM_001142644.2
p.S870G
c.2608A>G
1 paper
NM_001142644.2
p.E877_S878delFs
c.2629_2633del5
1 paper
NM_001142644.2
p.E877_S878del2
c.2629_2633del6
1 paper
NM_001142644.2
p.T809M
c.2426C>T
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