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

1–12 of 110 variants

4 papers

NM_001394998.1

p.Q1066*

c.3196C>T

3 papers

NM_025185.4

p.H407Splc

c.1219+1G>A

3 papers

NM_025185.4

p.Q1441*

c.4321C>T

2 papers

NM_001394998.1

p.R43C

c.127C>T

2 papers

NM_001394998.1

p.P59S

c.175C>T

2 papers

NM_025185.4

p.A183Splc

c.547+1G>A

2 papers

NM_001394998.1

p.P407S

c.1219C>T

2 papers

NM_025185.4

p.R755H

c.2264G>A

2 papers

NM_025185.4

p.R760C

c.2278C>T

2 papers

NM_025185.4

p.C784fs

c.2350_2351fs

2 papers

NM_025185.4

p.A928fs

c.2782_2783fs

2 papers

NM_025185.4

p.R961Q

c.2882G>A