Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.L802insFs

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.L802insFs
c.2404dupC
Surrounding Variants
2 papers
NM_013275.6
p.L802fs
c.2404_2405fs
2 papers
NM_013275.6
p.L802fs
c.2404_2405fs
15 papers
NM_013275.6
p.K803fs
c.2407_2408fs
2 papers
NM_013275.6
p.K803R
c.2408A>G
3 papers
NM_013275.6
p.L802_K803delFs
c.2404_2407del4
28 papers
NM_013275.6
p.E800_K801delFs
c.2398_2401del4
4 papers
NM_013275.6
p.K803fs
c.2407_2408fs
2 papers
NM_013275.6
p.E800fs
c.2398_2399fs
1 paper
NM_013275.6
p.E800_K804delFs
c.2398_2410del13
3 papers
NM_013275.6
p.K799delFs
c.2397delT
16 papers
NM_013275.6
p.E800fs
c.2398_2399fs
2 papers
NM_013275.6
p.E805*
c.2413G>T
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