Varaico: Literature-Extracted Genetic Variants

Gene:RTF1
Variant:p.R553Q

RTF1

59 papers

RefSeq Summary

This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind singl...

Pfam Domains

Plus-3aa 358–460UCSCPlus-3 domain

Gene Aliases

HGNC Name

RTF1 homolog, Paf1/RNA polymerase II complex component

HGNC Previous Symbol

KIAA0252

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015138.5
p.R553Q
c.1658G>A
Surrounding Variants
1 paper
NM_015138.5
p.R551H
c.1652G>A
1 paper
NM_015138.5
p.S558P
c.1672T>C
1 paper
NM_015138.5
p.R545Q
c.1634G>A
1 paper
NM_015138.5
p.A578D
c.1733C>A
1 paper
NM_015138.5
p.E498D
c.1494G>C
1 paper
NM_015138.5
p.E498D
c.1494G>T
1 paper
NM_015138.5
p.Q589H
c.1767A>C
1 paper
NM_015138.5
p.Q589H
c.1767A>T
1 paper
NM_015138.5
p.E494G
c.1481A>G
3 papers
NM_015138.5
p.K454M
c.1361A>T
1 paper
NM_015138.5
p.N432Y
c.1294A>T
1 paper
NM_015138.5
p.G431D
c.1292G>A
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