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.M1773I

c.5319G>C

Surrounding Variants

1 paper

NM_033394.3

p.M1773I

c.5319G>A

1 paper

NM_033394.3

p.M1773I

c.5319G>T

1 paper

NM_033394.3

p.Q1763L

c.5288A>T

1 paper

NM_033394.3

p.P1747L

c.5240C>T

1 paper

NM_033394.3

p.Q1815E

c.5443C>G

1 paper

NM_033394.3

p.G1725C

c.5173G>T

1 paper

NM_033394.3

p.T1721M

c.5162C>T

1 paper

NM_033394.3

p.S1845R

c.5533A>C

1 paper

NM_033394.3

p.S1845R

c.5535C>A

1 paper

NM_033394.3

p.S1845R

c.5535C>G

1 paper

NM_033394.3

p.H1846P

c.5537A>C

1 paper

NM_033394.3

p.V1694V

c.5082C>T