Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R405H

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.R405H
c.1214G>A
Surrounding Variants
1 paper
NM_013275.6
p.S408*
c.1223C>G
1 paper
NM_013275.6
p.S408*
c.1223C>A
1 paper
NM_013275.6
p.K401_A402delFs
c.1201_1204del4
1 paper
NM_013275.6
p.K401fs
c.1201_1202fs
1 paper
NM_013275.6
p.K401fs
c.1201_1202fs
1 paper
NM_013275.6
p.K400N
c.1200G>T
1 paper
NM_013275.6
p.K400N
c.1200G>C
1 paper
NM_013275.6
p.S411L
c.1232C>T
5 papers
NM_013275.6
p.S411*
c.1232C>A
1 paper
NM_013275.6
p.I397delFs
c.1189delT
1 paper
NM_013275.6
p.T396M
c.1187C>T
1 paper
NM_013275.6
p.N394fs
c.1180_1181fs
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