Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2341V

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
2 papers
NM_013275.6
p.A2341V
c.7022C>T
Surrounding Variants
1 paper
NM_013275.6
p.T2337_N2339del3
c.7009_7016del9
1 paper
NM_013275.6
p.R2338S
c.7014G>T
1 paper
NM_013275.6
p.R2338S
c.7014G>C
1 paper
NM_013275.6
p.L2344P
c.7031T>C
1 paper
NM_013275.6
p.I2332_M2336del5
c.6994_7007del15
3 papers
NM_013275.6
p.Q2334*
c.7000C>T
1 paper
NM_013275.6
p.P2333S
c.6997C>T
4 papers
NM_013275.6
p.V2329_I2332del4
c.6985_6995del12
2 papers
NM_013275.6
p.Q2350*
c.7048C>T
1 paper
NM_013275.6
p.K2349_Q2350Fs
c.7047_7049delinsTTFs
1 paper
NM_013275.6
p.Q2350del1
c.7048_7049delCTG
1 paper
NM_013275.6
p.V2329L
c.6985G>T
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