Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K438E

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.K438E
c.1312A>G
Surrounding Variants
1 paper
NM_013275.6
p.G436S
c.1306G>A
11 papers
NM_013275.6
p.R440*
c.1318C>T
1 paper
NM_013275.6
p.L434delFs
c.1301delA
1 paper
NM_013275.6
p.L434fs
c.1300_1301fs
1 paper
NM_013275.6
p.I433R
c.1298T>G
1 paper
NM_013275.6
p.T432M
c.1295C>T
1 paper
NM_013275.6
p.A445S
c.1333G>T
1 paper
NM_013275.6
p.S429fs
c.1285_1286fs
6 papers
NM_013275.6
p.S429delFs
c.1285_1286delGA
1 paper
NM_013275.6
p.S429L
c.1286C>T
3 papers
NM_013275.6
p.S429fs
c.1285_1286fs
1 paper
NM_013275.6
p.L428L
c.1284C>T
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