Varaico: Literature-Extracted Genetic Variants

Gene:TANC1
Variant:p.P30S

TANC1

99 papers

Pfam Domains

AAA_lid_TANC1aa 647–742UCSCTANC1-like, AAA+ ATPase lid domain
WHD_TANC1aa 744–898UCSCTANC1-like, winged helix-turn-helix domain
Ank_2aa 909–998UCSCAnkyrin repeats (3 copies)
Ank_2aa 938–1029UCSCAnkyrin repeats (3 copies)
Ank_2aa 980–1075UCSCAnkyrin repeats (3 copies)
Ank_2aa 1045–1142UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

HGNC Alias Symbols

KIAA1728; ROLSB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033394.3
p.P30S
c.88C>T
Surrounding Variants
1 paper
NM_033394.3
p.L69V
c.205T>G
2 papers
NM_033394.3
p.H75Y
c.223C>T
1 paper
NM_033394.3
p.G87Splc
c.259+1426A>G
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