Varaico: Literature-Extracted Genetic Variants

Gene:SAXO5
Variant:p.L500P

SAXO5

42 papers

Pfam Domains

SAXO5-likeaa 66–504UCSCStabilizer of axonemal microtubules 5

Gene Aliases

HGNC Name

stabilizer of axonemal microtubules 5

HGNC Previous Symbols

C19orf45; TEX45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198534.3
p.L500P
c.1499T>C
Surrounding Variants
1 paper
NM_198534.3
p.C501C
c.1503C>T
2 papers
NM_198534.3
p.P497S
c.1489C>T
1 paper
NM_198534.3
p.E472K
c.1414G>A
6 papers
NM_198534.3
p.Y434N
c.1300T>A
1 paper
NM_198534.3
p.R431_C432insFs
c.1293_1294insT
1 paper
NM_198534.3
p.R431fs
c.1291_1292fs
1 paper
NM_198534.3
p.P421P
c.1263G>A
1 paper
NM_198534.3
p.H417H
c.1251C>T
1 paper
NM_198534.3
p.P398P
c.1194G>A
2 papers
NM_198534.3
p.Y396N
c.1186T>A
1 paper
NM_198534.3
p.P378P
c.1134T>C
1 paper
NM_198534.3
p.T371S
c.1112C>G
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