Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A615V

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013275.6
p.A615V
c.1844C>T
Surrounding Variants
1 paper
NM_013275.6
p.A615G
c.1844C>G
1 paper
NM_013275.6
p.E616*
c.1846G>T
1 paper
NM_013275.6
p.S614C
c.1840A>T
2 papers
NM_013275.6
p.S613C
c.1838C>G
2 papers
NM_013275.6
p.A618T
c.1852G>A
1 paper
NM_013275.6
p.V619fs
c.1855_1856fs
2 papers
NM_013275.6
p.K621*
c.1861A>T
1 paper
NM_013275.6
p.D623N
c.1867G>A
1 paper
NM_013275.6
p.E606V
c.1817A>T
1 paper
NM_013275.6
p.E625D
c.1875G>T
1 paper
NM_013275.6
p.E625D
c.1875G>C
1 paper
NM_013275.6
p.L604M
c.1810C>A
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