Varaico: Literature-Extracted Genetic Variants

Gene:TAPT1
Variant:p.S468L

TAPT1

49 papers

RefSeq Summary

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium forma...

Pfam Domains

DUF747aa 155–459UCSCEukaryotic membrane protein family

Gene Aliases

HGNC Name

transmembrane anterior posterior transformation 1

HGNC Alias Symbol

FLJ90013

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153365.3
p.S468L
c.1403C>T
Surrounding Variants
1 paper
NM_153365.3
p.E465K
c.1393G>A
1 paper
NM_153365.3
p.P489S
c.1465C>T
1 paper
NM_153365.3
p.G492Splc
c.1474+10G>A
1 paper
NM_153365.3
p.G438Splc
c.1314-181G>A
1 paper
NM_153365.3
p.S500F
c.1499C>T
1 paper
NM_153365.3
p.E512K
c.1534G>A
1 paper
NM_153365.3
p.E534*
c.1600G>T
1 paper
NM_153365.3
p.T538M
c.1613C>T
1 paper
NM_153365.3
p.Y436H
c.1306T>C
1 paper
NM_153365.3
p.C431W
c.1293T>G
3 papers
NM_153365.3
p.L412_L413Splc
c.1237-52G>A
1 paper
NM_153365.3
p.L412F
c.1236A>T
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