Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.Y985*

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
4 papers
NM_001080517.3
p.Y985*
c.2955T>A
Surrounding Variants
3 papers
NM_001080517.3
p.Y985*
c.2955T>G
1 paper
NM_001080517.3
p.Y987F
c.2960A>T
1 paper
NM_001080517.3
p.R978fs
c.2932_2933fs
1 paper
NM_001080517.3
p.F977I
c.2929T>A
1 paper
NM_001080517.3
p.F977delFs
c.2931delT
1 paper
NM_001080517.3
p.A976G
c.2927C>G
1 paper
NM_001080517.3
p.R995*
c.2983C>T
5 papers
NM_001080517.3
p.S973*
c.2918C>A
7 papers
NM_001080517.3
p.S973*
c.2918C>G
1 paper
NM_001080517.3
p.G998*
c.2992G>T
1 paper
NM_001080517.3
p.N972insFs
c.2915dupA
9 papers
NM_001080517.3
p.R1001*
c.3001C>T
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