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

2 papers

NM_052997.3

p.Q530H

c.1590A>C

Surrounding Variants

1 paper

NM_052997.3

p.P520Q

c.1559C>A

1 paper

NM_052997.3

p.K518E

c.1552A>G

1 paper

NM_052997.3

p.F552L

c.1654T>C

1 paper

NM_052997.3

p.F552L

c.1656C>A

1 paper

NM_052997.3

p.F552L

c.1656C>G

1 paper

NM_052997.3

p.E514Q

c.1540G>C

1 paper

NM_052997.3

p.E500*

c.1498G>T

1 paper

NM_052997.3

p.P499T

c.1495C>A

1 paper

NM_052997.3

p.T574N

c.1721C>A

1 paper

NM_052997.3

p.C581Y

c.1742G>A

1 paper

NM_052997.3

p.K593E

c.1777A>G

1 paper

NM_052997.3

p.E478Q

c.1432G>C