Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.T375fs

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.T375fs
c.1123_1124fs
Surrounding Variants
2 papers
NM_013275.6
p.T375M
c.1124C>T
1 paper
NM_013275.6
p.E374fs
c.1120_1121fs
1 paper
NM_013275.6
p.T375fs
c.1123_1124fs
4 papers
NM_013275.6
p.E374*
c.1120G>T
1 paper
NM_013275.6
p.T375_K376delFs
c.1124_1128del5
1 paper
NM_013275.6
p.N378S
c.1133A>G
1 paper
NM_013275.6
p.K368delFs
c.1104delT
7 papers
NM_013275.6
p.K369R
c.1106A>G
1 paper
NM_013275.6
p.K369E
c.1105A>G
1 paper
NM_013275.6
p.S382insFs
c.1146dupT
1 paper
NM_013275.6
p.I383fs
c.1147_1148fs
1 paper
NM_013275.6
p.I383fs
c.1147_1148fs
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