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.Q1483H

c.4449G>T

Surrounding Variants

1 paper

NM_025185.4

p.Q1483H

c.4449G>C

1 paper

NM_025185.4

p.Q1483delFs

c.4449delG

2 papers

NM_025185.4

p.Q1483*

c.4447C>T

1 paper

NM_025185.4

p.Q1483fs

c.4447_4448fs

1 paper

NM_001394998.1

p.A1572A

c.4716C>T

1 paper

NM_001394998.1

p.S1580L

c.4739C>T

2 papers

NM_025185.4

p.R1469fs

c.4405_4406fs

1 paper

NM_025185.4

p.R1469delFs

c.4405delC

1 paper

NM_001394998.1

p.P1586_P1587del2

c.4756_4760del6

1 paper

NM_001394998.1

p.S1529delFs

c.4586delC

3 papers

NM_025185.4

p.Q1441*

c.4321C>T

1 paper

NM_025185.4

p.P1529fs

c.4585_4586fs