Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q2406*

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
7 papers
NM_013275.6
p.Q2406*
c.7216C>T
Surrounding Variants
1 paper
NM_013275.6
p.Q2405*
c.7213C>T
1 paper
NM_013275.6
p.R2408G
c.7222C>G
3 papers
NM_013275.6
p.T2404_T2407del4
c.7210_7220del12
1 paper
NM_013275.6
p.R2408fs
c.7222_7223fs
1 paper
NM_013275.6
p.E2409*
c.7225G>T
18 papers
NM_013275.6
p.Q2398_N2401del4
c.7192_7202del12
1 paper
NM_013275.6
p.Q2398_V2410del13
c.7192_7229del39
1 paper
NM_013275.6
p.Q2395_Q2398del4
c.7183_7193del12
1 paper
NM_013275.6
p.I2411ins7
c.7232_7233ins21
1 paper
NM_013275.6
p.L2400_N2401ins1
c.7200_7201insCTG
1 paper
NM_013275.6
p.I2411M
c.7233C>G
1 paper
NM_013275.6
p.T2404_I2411ins2
c.7212_7232dup21
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