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.E351fs

c.1051_1052fs

Surrounding Variants

1 paper

NM_052997.3

p.K344fs

c.1030_1031fs

1 paper

NM_052997.3

p.R359K

c.1076G>A

1 paper

NM_052997.3

p.Q340fs

c.1018_1019fs

1 paper

NM_052997.3

p.P364S

c.1090C>T

1 paper

NM_052997.3

p.P364L

c.1091C>T

1 paper

NM_052997.3

p.S336C

c.1007C>G

1 paper

NM_052997.3

p.T335S

c.1003A>T

1 paper

NM_052997.3

p.A329G

c.986C>G

1 paper

NM_052997.3

p.E327D

c.981G>C

1 paper

NM_052997.3

p.E327D

c.981G>T

1 paper

NM_052997.3

p.E327_A328delFs

c.981_982delGG

1 paper

NM_052997.3

p.P375L

c.1124C>T