Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.G1052_V1053del2

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.G1052_V1053del2
c.3154_3158del6
Surrounding Variants
1 paper
NM_001080517.3
p.G1052*
c.3154G>T
1 paper
NM_001080517.3
p.A1056V
c.3167C>T
1 paper
NM_001080517.3
p.G1045S
c.3133G>A
1 paper
NM_001080517.3
p.S1043L
c.3128C>T
1 paper
NM_001080517.3
p.R1039H
c.3116G>A
1 paper
NM_001080517.3
p.R1039fs
c.3115_3116fs
1 paper
NM_001080517.3
p.K1065_V1066Splc
c.3195+1G>T
1 paper
NM_001080517.3
p.S1038_R1039delFs
c.3114_3115delTC
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.S1026Y
c.3077C>A
1 paper
NM_001080517.3
p.A1022_Y1029insFs
c.3066_3087dup22
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