Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.A627delFs

SETD5

245 papers

RefSeq Summary

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been assoc...

Pfam Domains

SETaa 283–390UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 5

HGNC Alias Symbols

FLJ10707; SETD5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080517.3
p.A627delFs
c.1880_1881delCC
Surrounding Variants
1 paper
NM_001080517.3
p.Q628insFs
c.1883_1884insAG
1 paper
NM_001080517.3
p.T624T
c.1872C>G
4 papers
NM_001080517.3
p.Y622*
c.1866C>A
5 papers
NM_001080517.3
p.Y622*
c.1866C>G
1 paper
NM_001080517.3
p.K631_R632insFs
c.1893_1894insA
1 paper
NM_001080517.3
p.R618*
c.1852C>T
1 paper
NM_001080517.3
p.Q640*
c.1918C>T
1 paper
NM_001080517.3
p.S655R
c.1963A>C
3 papers
NM_001080517.3
p.L656delFs
c.1967delT
1 paper
NM_001080517.3
p.S655R
c.1965T>A
1 paper
NM_001080517.3
p.S655R
c.1965T>G
4 papers
NM_001080517.3
p.L656*
c.1967T>A
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