Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.L297delFs

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.L297delFs
c.890_891delTT
Surrounding Variants
1 paper
NM_001080517.3
p.L297fs
c.889_890fs
1 paper
NM_001080517.3
p.T296T
c.888T>G
1 paper
NM_001349451.2
p.I200L
c.598A>C
2 papers
NM_001080517.3
p.I298M
c.894A>G
1 paper
NM_001080517.3
p.I299delFs
c.896_897delTA
1 paper
NM_001080517.3
p.I299fs
c.895_896fs
1 paper
NM_001080517.3
p.R290fs
c.868_869fs
1 paper
NM_001080517.3
p.R290_D291delFs
c.868_872del5
1 paper
NM_001080517.3
p.M306delFs
c.918delG
7 papers
NM_001080517.3
p.R308*
c.922C>T
1 paper
NM_001080517.3
p.L286delFs
c.856delC
1 paper
NM_001080517.3
p.R283Q
c.848G>A
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