Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2522K

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
4 papers
NM_013275.6
p.E2522K
c.7564G>A
Surrounding Variants
4 papers
NM_013275.6
p.R2523W
c.7567C>T
1 paper
NM_013275.6
p.R2523Q
c.7568G>A
1 paper
NM_013275.6
p.R2523_E2524Splc
c.7569+1G>C
2 papers
NM_013275.6
p.R2523_E2524Splc
c.7569+1G>A
3 papers
NM_013275.6
p.H2519L
c.7556A>T
4 papers
NM_013275.6
p.Q2518*
c.7552C>T
1 paper
NM_013275.6
p.R2516fs
c.7546_7547fs
1 paper
NM_013275.6
p.L2515P
c.7544T>C
1 paper
NM_013275.6
p.R2512L
c.7535G>T
16 papers
NM_013275.6
p.R2512Q
c.7535G>A
15 papers
NM_013275.6
p.R2512W
c.7534C>T
1 paper
NM_013275.6
p.V2511V
c.7533C>T
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