Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q2350del1

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.Q2350del1
c.7048_7049delCTG
Surrounding Variants
1 paper
NM_013275.6
p.K2349_Q2350Fs
c.7047_7049delinsTTFs
2 papers
NM_013275.6
p.Q2350*
c.7048C>T
2 papers
NM_013275.6
p.P2354H
c.7061C>A
1 paper
NM_013275.6
p.P2354insFs
c.7062dupC
2 papers
NM_013275.6
p.P2354delFs
c.7062delG
1 paper
NM_013275.6
p.S2355fs
c.7063_7064fs
1 paper
NM_013275.6
p.S2355fs
c.7063_7064fs
1 paper
NM_013275.6
p.K2357R
c.7070A>G
1 paper
NM_013275.6
p.L2344P
c.7031T>C
2 papers
NM_013275.6
p.A2341V
c.7022C>T
3 papers
NM_013275.6
p.T2362fs
c.7084_7085fs
1 paper
NM_013275.6
p.T2337_N2339del3
c.7009_7016del9
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