Varaico: Literature-Extracted Genetic Variants

Gene:SURF6
Variant:p.P139delFs

SURF6

39 papers

RefSeq Summary

This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for...

Pfam Domains

SURF6aa 139–341UCSCSurfeit locus protein 6

Gene Aliases

HGNC Name

surfeit 6

HGNC Alias Symbols

FLJ30322; RRP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006753.6
p.P139delFs
c.417delA
Surrounding Variants
1 paper
NM_006753.6
p.P139fs
c.415_416fs
1 paper
NM_006753.6
p.A141V
c.422C>T
1 paper
NM_006753.6
p.L137P
c.410T>C
1 paper
NM_006753.6
p.R147W
c.439C>T
1 paper
NM_006753.6
p.R147Q
c.440G>A
5 papers
NM_006753.6
p.R163W
c.487C>T
1 paper
NM_006753.6
p.A164V
c.491C>T
3 papers
NM_006753.6
p.T175M
c.524C>T
1 paper
NM_006753.6
p.R193Q
c.578G>A
1 paper
NM_006753.6
p.K202_V203Splc
c.606+3G>A
1 paper
NM_006753.6
p.R216H
c.647G>A
1 paper
NM_006753.6
p.N235S
c.704A>G
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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."