Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2375fs

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.E2375fs
c.7123_7124fs
Surrounding Variants
1 paper
NM_013275.6
p.S2374C
c.7121C>G
3 papers
NM_013275.6
p.D2376E
c.7128C>G
3 papers
NM_013275.6
p.D2376E
c.7128C>A
1 paper
NM_013275.6
p.R2372fs
c.7114_7115fs
1 paper
NM_013275.6
p.R2372insFs
c.7114dupC
1 paper
NM_013275.6
p.D2378N
c.7132G>A
1 paper
NM_013275.6
p.R2372C
c.7114C>T
1 paper
NM_013275.6
p.R2372fs
c.7114_7115fs
1 paper
NM_013275.6
p.A2371S
c.7111G>T
4 papers
NM_013275.6
p.Q2380*
c.7138C>T
1 paper
NM_013275.6
p.R2368_A2369delFs
c.7103_7106del4
2 papers
NM_013275.6
p.A2369V
c.7106C>T
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