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

1–12 of 154 variants

3 papers

NM_052997.3

p.R929C

c.2785C>T

2 papers

NM_052997.3

p.E259Q

c.775G>C

2 papers

NM_052997.3

p.A317V

c.950C>T

2 papers

NM_052997.3

p.G429V

c.1286G>T

2 papers

NM_052997.3

p.Q530H

c.1590A>C

2 papers

NM_052997.3

p.V918I

c.2752G>A

2 papers

NM_052997.3

p.Q1257_R1258delFs

c.3771_3772delAA

1 paper

NM_052997.3

p.M1insFs

c.1_2insG

1 paper

NM_052997.3

p.M1_E2insG

c.1_5ins3

1 paper

NM_052997.3

p.M1L

c.1A>C

1 paper

NM_052997.3

p.M1V

c.1A>G

1 paper

NM_052997.3

p.M1L

c.1A>T