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_025185.4

p.F741Y

c.2222T>A

Surrounding Variants

2 papers

NM_025185.4

p.R755H

c.2264G>A

2 papers

NM_025185.4

p.R760C

c.2278C>T

1 paper

NM_025185.4

p.R768*

c.2302C>T

1 paper

NM_001394998.1

p.I846_W847del1

c.2537_2539delTCT

1 paper

NM_001394998.1

p.N783insFs

c.2348_2349insCT

1 paper

NM_001394998.1

p.D776Y

c.2326G>T

1 paper

NM_025185.4

p.L783insFs

c.2348_2349insCT

2 papers

NM_025185.4

p.C784fs

c.2350_2351fs

1 paper

NM_025185.4

p.P786L

c.2357C>T

1 paper

NM_001394998.1

p.S756L

c.2267C>T

1 paper

NM_001394998.1

p.Q725E

c.2173C>G

1 paper

NM_025185.4

p.R617W

c.1849C>T