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.R262Q

c.785G>A

Surrounding Variants

1 paper

NM_052997.3

p.L264I

c.790T>A

1 paper

NM_052997.3

p.L264F

c.792A>C

1 paper

NM_052997.3

p.L264F

c.792A>T

1 paper

NM_052997.3

p.E259K

c.775G>A

2 papers

NM_052997.3

p.E259Q

c.775G>C

1 paper

NM_052997.3

p.H268L

c.803A>T

1 paper

NM_052997.3

p.E255A

c.764A>C

1 paper

NM_052997.3

p.I253V

c.757A>G

1 paper

NM_052997.3

p.F250L

c.750T>A

1 paper

NM_052997.3

p.F250L

c.750T>G

1 paper

NM_052997.3

p.F250L

c.748T>C

1 paper

NM_052997.3

p.V231L

c.691G>C