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.A1133S

c.3397G>T

Surrounding Variants

1 paper

NM_001394998.1

p.A1133P

c.3397G>C

2 papers

NM_025185.4

p.R1066*

c.3196C>T

1 paper

NM_025185.4

p.G1133E

c.3398G>A

2 papers

NM_025185.4

p.V1181_V1182Splc

c.3543+1G>T

1 paper

NM_001394998.1

p.D1270N

c.3808G>A

1 paper

NM_001394998.1

p.D1270Y

c.3808G>T

1 paper

NM_025185.4

p.Q993R

c.2978A>G

4 papers

NM_001394998.1

p.Q1066*

c.3196C>T

2 papers

NM_025185.4

p.R961Q

c.2882G>A