Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.E1002K

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.E1002K
c.3004G>A
Surrounding Variants
1 paper
NM_001142644.2
p.L1000P
c.2999T>C
1 paper
NM_001142644.2
p.T1007M
c.3020C>T
1 paper
NM_001142644.2
p.D1008D
c.3024C>T
1 paper
NM_001142644.2
p.E1009K
c.3025G>A
1 paper
NM_001142644.2
p.V992G
c.2975T>G
1 paper
NM_001142644.2
p.G989delins
c.2965_2966delinsAA
2 papers
NM_001142644.2
p.G989R
c.2965G>C
2 papers
NM_001142644.2
p.G989R
c.2965G>A
1 paper
NM_001142644.2
p.L1017L
c.3051G>A
1 paper
NM_001142644.2
p.S985I
c.2954G>T
1 paper
NM_001142644.2
p.K982R
c.2945A>G
1 paper
NM_001142644.2
p.S1025F
c.3074C>T
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