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.I1770V

c.5308A>G

Surrounding Variants

1 paper

NM_001394998.1

p.H1773_P1782insFs

c.5319_5344dup26

2 papers

NM_025185.4

p.H1689R

c.5066A>G

1 paper

NM_001394998.1

p.G1750E

c.5249G>A

1 paper

NM_025185.4

p.G1652fs

c.4954_4955fs

1 paper

NM_025185.4

p.G1652_S1656delFs

c.4955_4967del13

1 paper

NM_025185.4

p.Y1633C

c.4898A>G

1 paper

NM_025185.4

p.A1621A

c.4863C>T

2 papers

NM_025185.4

p.R1770G

c.5308A>G

1 paper

NM_025185.4

p.Q1601fs

c.4801_4802fs

1 paper

NM_025185.4

p.Q1601insFs

c.4801dupC

1 paper

NM_025185.4

p.L1773_F1782insFs

c.5319_5344dup26

2 papers

NM_025185.4

p.F1782fs

c.5344_5345fs