Varaico: Literature-Extracted Genetic Variants

TANC2

17q23.2-q23.3 (UCSC)OMIM PanelApp GTEx

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

1 paper

NM_001394998.1

p.V68M

c.202G>A

Surrounding Variants

1 paper

NM_001394998.1

p.V68L

c.202G>C

1 paper

NM_001394998.1

p.V68L

c.202G>T

1 paper

NM_001394998.1

p.L66P

c.197T>C

1 paper

NM_001394998.1

p.A62T

c.184G>A

2 papers

NM_001394998.1

p.P59S

c.175C>T

1 paper

NM_001394998.1

p.K104*

c.310A>T

1 paper

NM_001394998.1

p.T107S

c.319A>T