Varaico: Literature-Extracted Genetic Variants

Gene:TANC2
Variant:p.A183Splc

TANC2

69 papers

Pfam Domains

AAA_lid_TANC1aa 671–766UCSCTANC1-like, AAA+ ATPase lid domain
WHD_TANC1aa 768–922UCSCTANC1-like, winged helix-turn-helix domain
Ank_2aa 1014–1096UCSCAnkyrin repeats (3 copies)
Ank_2aa 1069–1171UCSCAnkyrin repeats (3 copies)
Ank_2aa 1145–1237UCSCAnkyrin repeats (3 copies)
Ank_2aa 1229–1303UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

HGNC Alias Symbols

DKFZP564D166; FLJ10215; FLJ11824; KIAA1148; KIAA1636; rols; ROLSA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025185.4
p.A183Splc
c.547+1G>A
Surrounding Variants
1 paper
NM_001394998.1
p.V189L
c.565G>C
1 paper
NM_025185.4
p.P80L
c.239C>T
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