Varaico: Literature-Extracted Genetic Variants

Gene:TRIM28
Variant:p.L80fs

TRIM28

239 papers

RefSeq Summary

The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nuc...

Pfam Domains

zf-RING_5aa 64–122UCSCzinc-RING finger domain
zf-B_boxaa 148–195UCSCB-box zinc finger
zf-B_boxaa 204–245UCSCB-box zinc finger
PHDaa 628–669UCSCPHD-finger

Gene Aliases

HGNC Name

tripartite motif containing 28

HGNC Alias Symbols

TIF1B; KAP1; TF1B; RNF96; PPP1R157; KAP-1; TIF1-beta; TIF1beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005762.3
p.L80fs
c.238_239fs
Surrounding Variants
1 paper
NM_005762.3
p.R79P
c.236G>C
2 papers
NM_005762.3
p.L80_P82delFs
c.239_245del7
1 paper
NM_005762.3
p.P78L
c.233C>T
2 papers
NM_005762.3
p.P82_C83delFs
c.246_247delCT
3 papers
NM_005762.3
p.E77fs
c.229_230fs
3 papers
NM_005762.3
p.C83fs
c.247_248fs
1 paper
NM_005762.3
p.P74S
c.220C>T
2 papers
NM_005762.3
p.R71fs
c.211_212fs
1 paper
NM_005762.3
p.E70fs
c.208_209fs
1 paper
NM_005762.3
p.A90D
c.269C>A
1 paper
NM_005762.3
p.A90V
c.269C>T
1 paper
NM_005762.3
p.R69K
c.206G>A
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