Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.N242K

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.N242K
c.726T>G
Surrounding Variants
1 paper
NM_001142644.2
p.N242K
c.726T>A
1 paper
NM_001142644.2
p.E245*
c.733G>T
1 paper
NM_001142644.2
p.E235K
c.703G>A
1 paper
NM_001142644.2
p.G251R
c.751G>C
1 paper
NM_001142644.2
p.G251R
c.751G>A
1 paper
NM_001142644.2
p.Q254L
c.761A>T
1 paper
NM_001142644.2
p.W257*
c.770G>A
1 paper
NM_001142644.2
p.T278delFs
c.832delT
1 paper
NM_001142644.2
p.E288Q
c.862G>C
2 papers
NM_001142644.2
p.K292N
c.876G>T
2 papers
NM_001142644.2
p.K292N
c.876G>C
1 paper
NM_001142644.2
p.N293delFs
c.877_878delTT
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