Varaico: Literature-Extracted Genetic Variants

Gene:RUNDC1
Variant:p.V112L

RUNDC1

33 papers

RefSeq Summary

This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a pote...

Pfam Domains

RUNDC1aa 181–286UCSCRUN domain-containing protein 1 domain
RUNaa 429–601UCSCRUN domain

Gene Aliases

HGNC Name

RUN domain containing 1

HGNC Alias Symbol

DKFZp761H0421

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173079.5
p.V112L
c.334G>T
Surrounding Variants
1 paper
NM_173079.5
p.V112L
c.334G>C
1 paper
NM_173079.5
p.P116_E118del0
c.346_354del9
1 paper
NM_173079.5
p.R124W
c.370C>T
1 paper
NM_173079.5
p.L80P
c.239T>C
1 paper
NM_173079.5
p.P146S
c.436C>T
1 paper
NM_173079.5
p.A49T
c.145G>A
1 paper
NM_173079.5
p.R39S
c.115C>A
1 paper
NM_173079.5
p.K22K
c.66A>G
4 papers
NM_173079.5
p.Q172*
c.514C>T
1 paper
NM_173079.5
p.R174C
c.520C>T
1 paper
NM_173079.5
p.E216E
c.648A>G
1 paper
NM_173079.5
p.S238R
c.712A>C
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