Varaico: Literature-Extracted Genetic Variants

Gene:SSBP1
Variant:p.N52H

SSBP1

123 papers

RefSeq Summary

SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the mainten...

Pfam Domains

SSBaa 30–140UCSCSingle-strand binding protein family

Gene Aliases

HGNC Name

single stranded DNA binding protein 1

HGNC Alias Symbol

mtSSB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003143.3
p.N52H
c.154A>C
Surrounding Variants
3 papers
NM_003143.3
p.K51E
c.151A>G
1 paper
NM_003143.3
p.V54I
c.160G>A
1 paper
NM_003143.3
p.T55I
c.164C>T
1 paper
NM_003143.3
p.Q47E
c.139C>G
1 paper
NM_003143.3
p.P43L
c.128C>T
1 paper
NM_003143.3
p.N62insFs
c.185_186insA
8 papers
NM_003143.3
p.N62D
c.184A>G
1 paper
NM_003143.3
p.Q41*
c.121C>T
11 papers
NM_003143.3
p.G40V
c.119G>T
17 papers
NM_003143.3
p.R38Q
c.113G>A
1 paper
NM_003143.3
p.R38G
c.112C>G
1 paper
NM_003143.3
p.R38*
c.112C>T
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."