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.K1407T

c.4220A>C

Surrounding Variants

1 paper

NM_033394.3

p.V1413I

c.4237G>A

1 paper

NM_033394.3

p.L1399F

c.4195C>T

1 paper

NM_033394.3

p.L1420fs

c.4258_4259fs

1 paper

NM_033394.3

p.G1449_L1450delins

c.4347_4348delinsTG

2 papers

NM_033394.3

p.F1454L

c.4360T>C

2 papers

NM_033394.3

p.F1454L

c.4362T>A

2 papers

NM_033394.3

p.F1454L

c.4362T>G

2 papers

NM_033394.3

p.H1455Y

c.4363C>T

1 paper

NM_033394.3

p.P1475_R1476del2

c.4423_4427del6

2 papers

NM_033394.3

p.G1511S

c.4531G>A

1 paper

NM_033394.3

p.L1524F

c.4570C>T

1 paper

NM_033394.3

p.V1534M

c.4600G>A