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.E401G

c.1202A>G

Surrounding Variants

1 paper

NM_052997.3

p.P392A

c.1174C>G

1 paper

NM_052997.3

p.E389Q

c.1165G>C

1 paper

NM_052997.3

p.A418T

c.1252G>A

1 paper

NM_052997.3

p.A384P

c.1150G>C

1 paper

NM_052997.3

p.E420V

c.1259A>T

1 paper

NM_052997.3

p.K421fs

c.1261_1262fs

1 paper

NM_052997.3

p.R379S

c.1137A>T

1 paper

NM_052997.3

p.E423K

c.1267G>A

1 paper

NM_052997.3

p.P425L

c.1274C>T

1 paper

NM_052997.3

p.P375L

c.1124C>T

2 papers

NM_052997.3

p.G429V

c.1286G>T

1 paper

NM_052997.3

p.P364L

c.1091C>T