Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.E478G

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.E478G
c.1433A>G
Surrounding Variants
1 paper
NM_001142644.2
p.V475V
c.1425C>A
1 paper
NM_001142644.2
p.S459N
c.1376G>A
2 papers
NM_001142644.2
p.A499V
c.1496C>T
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.C502S
c.1504T>A
1 paper
NM_001142644.2
p.C502S
c.1505G>C
1 paper
NM_001142644.2
p.V453insFs
c.1358dupT
1 paper
NM_001142644.2
p.V452I
c.1354G>A
1 paper
NM_001142644.2
p.T505N
c.1514C>A
1 paper
NM_001142644.2
p.N445N
c.1335T>C
1 paper
NM_001142644.2
p.E517D
c.1551A>T
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