Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.T624T

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.T624T
c.1872C>G
Surrounding Variants
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.A627delFs
c.1880_1881delCC
1 paper
NM_001080517.3
p.Q628insFs
c.1883_1884insAG
1 paper
NM_001080517.3
p.R618*
c.1852C>T
1 paper
NM_001080517.3
p.K631_R632insFs
c.1893_1894insA
1 paper
NM_001080517.3
p.Q640*
c.1918C>T
1 paper
NM_001080517.3
p.A597T
c.1789G>A
2 papers
NM_001080517.3
p.D595V
c.1784A>T
1 paper
NM_001080517.3
p.G594_D595Splc
c.1783-1G>C
1 paper
NM_001080517.3
p.S655R
c.1963A>C
1 paper
NM_001080517.3
p.G594_D595Splc
c.1783-2A>G
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