Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.V453insFs

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.V453insFs
c.1358dupT
Surrounding Variants
1 paper
NM_001142644.2
p.V452I
c.1354G>A
1 paper
NM_001142644.2
p.D457H
c.1369G>C
1 paper
NM_001142644.2
p.D457N
c.1369G>A
1 paper
NM_001142644.2
p.S459N
c.1376G>A
1 paper
NM_001142644.2
p.N445N
c.1335T>C
1 paper
NM_001142644.2
p.Y433F
c.1298A>T
1 paper
NM_001142644.2
p.V475V
c.1425C>A
1 paper
NM_001142644.2
p.E478G
c.1433A>G
1 paper
NM_001142644.2
p.A419E
c.1256C>A
1 paper
NM_001142644.2
p.Q416R
c.1247A>G
1 paper
NM_001142644.2
p.Q411K
c.1231C>A
1 paper
NM_001142644.2
p.Q409E
c.1225C>G
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