Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K590_V592delFs

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.K590_V592delFs
c.1770_1776del7
Surrounding Variants
1 paper
NM_013275.6
p.R593G
c.1777A>G
3 papers
NM_013275.6
p.V586_V592delFs
c.1757_1776del20
1 paper
NM_013275.6
p.E587_P591del5
c.1759_1772del15
2 papers
NM_013275.6
p.K594*
c.1780A>T
1 paper
NM_013275.6
p.P591fs
c.1771_1772fs
1 paper
NM_013275.6
p.P591L
c.1772C>T
1 paper
NM_013275.6
p.P591fs
c.1771_1772fs
1 paper
NM_013275.6
p.R595K
c.1784G>A
4 papers
NM_013275.6
p.R595_Q596delins
c.1785_1786delinsTT
1 paper
NM_013275.6
p.L589P
c.1766T>C
2 papers
NM_013275.6
p.S588L
c.1763C>T
1 paper
NM_013275.6
p.S588*
c.1763C>A
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