Varaico: Literature-Extracted Genetic Variants

Gene:TRIM28
Variant:p.S501R

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.S501R
c.1501A>C
Surrounding Variants
2 papers
NM_005762.3
p.S501R
c.1503C>A
2 papers
NM_005762.3
p.S501R
c.1503C>G
1 paper
NM_005762.3
p.Q502*
c.1504C>T
1 paper
NM_005762.3
p.D496N
c.1486G>A
1 paper
NM_005762.3
p.V508L
c.1522G>C
1 paper
NM_005762.3
p.V508G
c.1523T>G
1 paper
NM_005762.3
p.E491D
c.1473A>C
1 paper
NM_005762.3
p.E491D
c.1473A>T
1 paper
NM_005762.3
p.S512fs
c.1534_1535fs
2 papers
NM_005762.3
p.V488E
c.1463T>A
2 papers
NM_005762.3
p.V488A
c.1463T>C
1 paper
NM_005762.3
p.V488L
c.1462G>T
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