Varaico: Literature-Extracted Genetic Variants

Gene:SSBP1

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
1–12 of 56 variants
21 papers
NM_003143.3
p.R107Q
c.320G>A
17 papers
NM_003143.3
p.R38Q
c.113G>A
11 papers
NM_003143.3
p.G40V
c.119G>T
10 papers
NM_003143.3
p.E111Q
c.331G>C
9 papers
NM_003143.3
p.E27K
c.79G>A
9 papers
NM_003143.3
p.I132V
c.394A>G
9 papers
NM_003143.3
p.S141N
c.422G>A
8 papers
NM_003143.3
p.N62D
c.184A>G
6 papers
NM_003143.3
p.M1I
c.3G>A
3 papers
NM_003143.3
p.K51E
c.151A>G
3 papers
NM_003143.3
p.L75P
c.224T>C
3 papers
NM_003143.3
p.R91Q
c.272G>A
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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."