Varaico: Literature-Extracted Genetic Variants

Gene:SMC5

SMC5

97 papers

Pfam Domains

AAA_23aa 55–261UCSCAAA domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 5

HGNC Previous Symbol

SMC5L1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
7 papers
NM_015110.4
p.V306I
c.916G>A
5 papers
NM_015110.4
p.C308R
c.922T>C
4 papers
NM_015110.4
p.R372del1
c.1114_1115delAGA
3 papers
NM_015110.4
p.Q370_R371del1
c.1110_1112delGAG
2 papers
NM_015110.4
p.R425*
c.1273C>T
2 papers
NM_015110.4
p.R733Q
c.2198G>A
2 papers
NM_015110.4
p.H990D
c.2968C>G
1 paper
NM_015110.4
p.M1Fs
c.1delinsTTFs
1 paper
NM_015110.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_015110.4
p.P24P
c.72T>A
1 paper
NM_015110.4
p.S26S
c.78G>T
1 paper
NM_015110.4
p.P37Q
c.110C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."