Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V2179G

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.V2179G
c.6536T>G
Surrounding Variants
2 papers
NM_013275.6
p.G2177_D2178del2
c.6529_6533del6
7 papers
NM_013275.6
p.N2175_D2178del4
c.6523_6533del12
1 paper
NM_013275.6
p.S2180fs
c.6538_6539fs
2 papers
NM_013275.6
p.G2176_S2180delFs
c.6528_6538del11
1 paper
NM_013275.6
p.D2178fs
c.6532_6533fs
1 paper
NM_013275.6
p.D2178Y
c.6532G>T
1 paper
NM_013275.6
p.G2177fs
c.6529_6530fs
2 papers
NM_013275.6
p.G2177fs
c.6529_6530fs
2 papers
NM_013275.6
p.G2176A
c.6527G>C
1 paper
NM_013275.6
p.V2183M
c.6547G>A
3 papers
NM_013275.6
p.V2182_V2183del2
c.6544_6548del6
1 paper
NM_013275.6
p.V2173fs
c.6517_6518fs
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