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.I1350M

c.4050A>G

Surrounding Variants

1 paper

NM_052997.3

p.Q1285R

c.3854A>G

1 paper

NM_052997.3

p.S1262C

c.3784A>T

2 papers

NM_052997.3

p.Q1257_R1258delFs

c.3771_3772delAA

1 paper

NM_052997.3

p.Q1251H

c.3753A>C

1 paper

NM_052997.3

p.A1222V

c.3665C>T

1 paper

NM_052997.3

p.T1214T

c.3642A>C

1 paper

NM_052997.3

p.D1210V

c.3629A>T

1 paper

NM_052997.3

p.V1206L

c.3616G>C

1 paper

NM_052997.3

p.V1170A

c.3509T>C

1 paper

NM_052997.3

p.L1152P

c.3455T>C

1 paper

NM_052997.3

p.Y1125_I1138delFs

c.3373_3412del40

1 paper

NM_052997.3

p.Q1089H

c.3267G>C