Varaico: Literature-Extracted Genetic Variants

TANC1

2q24.2 (UCSC)OMIM GTEx

99 papers

Pfam Domains

AAA_lid_TANC1aa 647–742UCSCTANC1-like, AAA+ ATPase lid domain

WHD_TANC1aa 744–898UCSCTANC1-like, winged helix-turn-helix domain

Ank_2aa 909–998UCSCAnkyrin repeats (3 copies)

Ank_2aa 938–1029UCSCAnkyrin repeats (3 copies)

Ank_2aa 980–1075UCSCAnkyrin repeats (3 copies)

Ank_2aa 1045–1142UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

HGNC Alias Symbols

KIAA1728; ROLSB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_033394.3

p.G279R

c.835G>C

Surrounding Variants

2 papers

NM_033394.3

p.G279R

c.835G>A

1 paper

NM_033394.3

p.A281T

c.841G>A

2 papers

NM_033394.3

p.R264C

c.790C>T

1 paper

NM_033394.3

p.K258N

c.774G>C

1 paper

NM_033394.3

p.K258N

c.774G>T

1 paper

NM_033394.3

p.Q257H

c.771G>T

1 paper

NM_033394.3

p.Q301*

c.901C>T

4 papers

NM_033394.3

p.N251S

c.752A>G

1 paper

NM_033394.3

p.A316P

c.946G>C

1 paper

NM_033394.3

p.R239Q

c.716G>A

1 paper

NM_033394.3

p.R239W

c.715C>T

1 paper

NM_033394.3

p.S319L

c.956C>T