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.M57L

c.169A>T

Surrounding Variants

1 paper

NM_052997.3

p.K56T

c.167A>C

1 paper

NM_052997.3

p.T58T

c.174A>T

1 paper

NM_052997.3

p.G49A

c.146G>C

1 paper

NM_052997.3

p.S47S

c.141C>G

1 paper

NM_052997.3

p.A45A

c.135T>A

1 paper

NM_052997.3

p.K73E

c.217A>G

1 paper

NM_052997.3

p.R74W

c.220A>T

1 paper

NM_052997.3

p.D38V

c.113A>T

1 paper

NM_052997.3

p.I33V

c.97A>G

1 paper

NM_052997.3

p.I33F

c.97A>T

1 paper

NM_052997.3

p.D30G

c.89A>G

1 paper

NM_052997.3

p.D30V

c.89A>T