Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.D1015G

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
2 papers
NM_001080517.3
p.D1015G
c.3044A>G
Surrounding Variants
1 paper
NM_001080517.3
p.G1017insFs
c.3050dupG
1 paper
NM_001080517.3
p.A1022_Y1029insFs
c.3066_3087dup22
1 paper
NM_001080517.3
p.S1026Y
c.3077C>A
9 papers
NM_001080517.3
p.R1001*
c.3001C>T
1 paper
NM_001080517.3
p.E1030insFs
c.3089_3090insG
1 paper
NM_001080517.3
p.E1030G
c.3089A>G
1 paper
NM_001080517.3
p.G998*
c.2992G>T
1 paper
NM_001080517.3
p.R995*
c.2983C>T
1 paper
NM_001080517.3
p.S1038_R1039delFs
c.3114_3115delTC
1 paper
NM_001080517.3
p.R1039fs
c.3115_3116fs
1 paper
NM_001080517.3
p.R1039H
c.3116G>A
1 paper
NM_001080517.3
p.Y987F
c.2960A>T
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