Varaico: Literature-Extracted Genetic Variants

Gene:TACC1
Variant:p.S316*

TACC1

74 papers

RefSeq Summary

This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding differe...

Pfam Domains

TACC_Caa 374–574UCSCTransforming acidic coiled-coil-containing protein (TACC), C-terminal

Gene Aliases

HGNC Name

transforming acidic coiled-coil containing protein 1

HGNC Previous Name

transforming, acidic coiled-coil containing protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006283.3
p.S316*
c.947C>A
Surrounding Variants
1 paper
NM_006283.3
p.S316*
c.947C>G
1 paper
NM_006283.3
p.L318delFs
c.953delT
1 paper
NM_006283.3
p.E312E
c.936G>A
1 paper
NM_006283.3
p.E311G
c.932A>G
1 paper
NM_006283.3
p.E326K
c.976G>A
1 paper
NM_006283.3
p.N330I
c.989A>T
1 paper
NM_006283.3
p.K292E
c.874A>G
1 paper
NM_006283.3
p.D281G
c.842A>G
1 paper
NM_006283.3
p.K383N
c.1149G>C
1 paper
NM_006283.3
p.K383N
c.1149G>T
1 paper
NM_006283.3
p.S248*
c.743C>A
1 paper
NM_006283.3
p.S248*
c.743C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."