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.F250L

c.750T>G

Surrounding Variants

1 paper

NM_052997.3

p.F250L

c.750T>A

1 paper

NM_052997.3

p.F250L

c.748T>C

1 paper

NM_052997.3

p.V231L

c.691G>C

1 paper

NM_052997.3

p.Q227E

c.679C>G

1 paper

NM_052997.3

p.Q226H

c.678G>C

1 paper

NM_052997.3

p.Q226H

c.678G>T

1 paper

NM_052997.3

p.E219Q

c.655G>C

1 paper

NM_052997.3

p.N202S

c.605A>G

1 paper

NM_052997.3

p.V201I

c.601G>A

1 paper

NM_052997.3

p.A200G

c.599C>G

1 paper

NM_052997.3

p.E189K

c.565G>A

1 paper

NM_052997.3

p.V188A

c.563T>C