Varaico: Literature-Extracted Genetic Variants

ANKRD30A

61 papers

RefSeq Summary

This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [pr...

Pfam Domains

Ank_2aa 4–80UCSCAnkyrin repeats (3 copies)

Ank_2aa 87–179UCSCAnkyrin repeats (3 copies)

Ank_2aa 176–272UCSCAnkyrin repeats (3 copies)

CCDC144Caa 973–1041UCSCCCDC144C protein coiled-coil region

CCDC144Caa 1032–1341UCSCCCDC144C protein coiled-coil region

CCDC144Caa 1088–1397UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 30A

HGNC Alias Symbol

NY-BR-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052997.3

p.D924D

c.2772T>C

Surrounding Variants

2 papers

NM_052997.3

p.V918I

c.2752G>A

3 papers

NM_052997.3

p.R929C

c.2785C>T

1 paper

NM_052997.3

p.A883G

c.2648C>G