Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.Q465*

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.Q465*
c.1393C>T
Surrounding Variants
1 paper
NM_001080517.3
p.Q465R
c.1394A>G
1 paper
NM_001080517.3
p.Q467insFs
c.1401dupA
1 paper
NM_001080517.3
p.E468fs
c.1402_1403fs
3 papers
NM_001080517.3
p.N461fs
c.1381_1382fs
2 papers
NM_001080517.3
p.N461fs
c.1381_1382fs
4 papers
NM_001080517.3
p.V469I
c.1405G>A
4 papers
NM_001080517.3
p.N461_D463delFs
c.1381_1388del8
1 paper
NM_001080517.3
p.S458L
c.1373C>T
1 paper
NM_001080517.3
p.T474S
c.1421C>G
1 paper
NM_001080517.3
p.Q453*
c.1357C>T
1 paper
NM_001080517.3
p.E450D
c.1350G>C
1 paper
NM_001080517.3
p.E450D
c.1350G>T
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