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

1–12 of 135 variants

4 papers

NM_033394.3

p.N251S

c.752A>G

4 papers

NM_033394.3

p.T1573A

c.4717A>G

3 papers

NM_033394.3

p.P30S

c.88C>T

2 papers

NM_033394.3

p.H75Y

c.223C>T

2 papers

NM_033394.3

p.R264C

c.790C>T

2 papers

NM_033394.3

p.G279R

c.835G>A

2 papers

NM_033394.3

p.G279R

c.835G>C

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

2 papers

NM_033394.3

p.G1511S

c.4531G>A