Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q2395_Q2398del4

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.Q2395_Q2398del4
c.7183_7193del12
Surrounding Variants
1 paper
NM_013275.6
p.L2400_N2401ins1
c.7200_7201insCTG
1 paper
NM_013275.6
p.L2400V
c.7198C>G
18 papers
NM_013275.6
p.Q2398_N2401del4
c.7192_7202del12
1 paper
NM_013275.6
p.Q2398L
c.7193A>T
8 papers
NM_013275.6
p.Q2398*
c.7192C>T
1 paper
NM_013275.6
p.Q2397P
c.7190A>C
8 papers
NM_013275.6
p.Q2397*
c.7189C>T
1 paper
NM_013275.6
p.Q2405*
c.7213C>T
7 papers
NM_013275.6
p.Q2406*
c.7216C>T
4 papers
NM_013275.6
p.Q2395*
c.7183C>T
4 papers
NM_013275.6
p.Q2394*
c.7180C>T
1 paper
NM_013275.6
p.R2408G
c.7222C>G
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