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

1 paper

NM_033394.3

p.G690E

c.2069G>A

Surrounding Variants

1 paper

NM_033394.3

p.R699Q

c.2096G>A

1 paper

NM_033394.3

p.L680insFs

c.2039_2040ins4

1 paper

NM_033394.3

p.S734S

c.2202T>G

1 paper

NM_033394.3

p.Y737C

c.2210A>G

1 paper

NM_033394.3

p.A639V

c.1916C>T

1 paper

NM_033394.3

p.F745L

c.2233T>C

1 paper

NM_033394.3

p.F745L

c.2235C>A

1 paper

NM_033394.3

p.F745L

c.2235C>G

1 paper

NM_033394.3

p.E785G

c.2354A>G

1 paper

NM_033394.3

p.M811I

c.2433G>A

1 paper

NM_033394.3

p.M811I

c.2433G>C

1 paper

NM_033394.3

p.M811I

c.2433G>T