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

4 papers

NM_033394.3

p.T1573A

c.4717A>G

Surrounding Variants

1 paper

NM_033394.3

p.A1572_T1573delins

c.4716_4717delinsTG

1 paper

NM_033394.3

p.G1568V

c.4703G>T

1 paper

NM_033394.3

p.P1565L

c.4694C>T

1 paper

NM_033394.3

p.S1545S

c.4635G>A

1 paper

NM_033394.3

p.G1602A

c.4805G>C

1 paper

NM_033394.3

p.T1536T

c.4608C>A

1 paper

NM_033394.3

p.V1534M

c.4600G>A

1 paper

NM_033394.3

p.L1524F

c.4570C>T

2 papers

NM_033394.3

p.G1511S

c.4531G>A

1 paper

NM_033394.3

p.V1654M

c.4960G>A

1 paper

NM_033394.3

p.R1655Q

c.4964G>A

1 paper

NM_033394.3

p.P1475_R1476del2

c.4423_4427del6