Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S478P

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.S478P
c.1432T>C
Surrounding Variants
1 paper
NM_013275.6
p.C477S
c.1430G>C
1 paper
NM_013275.6
p.C477S
c.1429T>A
1 paper
NM_013275.6
p.K475N
c.1425G>T
1 paper
NM_013275.6
p.K475fs
c.1423_1424fs
1 paper
NM_013275.6
p.K475N
c.1425G>C
1 paper
NM_013275.6
p.K475fs
c.1423_1424fs
1 paper
NM_013275.6
p.D474insFs
c.1422dupC
1 paper
NM_013275.6
p.S481*
c.1442C>A
1 paper
NM_013275.6
p.E482*
c.1444G>T
1 paper
NM_013275.6
p.D474N
c.1420G>A
1 paper
NM_013275.6
p.S473R
c.1419C>G
1 paper
NM_013275.6
p.S473R
c.1419C>A
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