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.S319L

c.956C>T

Surrounding Variants

1 paper

NM_033394.3

p.I340V

c.1018A>G

1 paper

NM_033394.3

p.R341G

c.1021A>G

1 paper

NM_033394.3

p.Q365R

c.1094A>G

1 paper

NM_033394.3

p.L369W

c.1106T>G

1 paper

NM_033394.3

p.I395K

c.1184T>A

1 paper

NM_033394.3

p.S425F

c.1274C>T

1 paper

NM_033394.3

p.S471R

c.1411A>C

1 paper

NM_033394.3

p.S471R

c.1413T>A

1 paper

NM_033394.3

p.S471R

c.1413T>G

1 paper

NM_033394.3

p.E492delFs

c.1475_1476delAG

1 paper

NM_033394.3

p.A316P

c.946G>C

1 paper

NM_033394.3

p.H523L

c.1568A>T