Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.L656delFs

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
3 papers
NM_001080517.3
p.L656delFs
c.1967delT
Surrounding Variants
1 paper
NM_001080517.3
p.S655R
c.1963A>C
1 paper
NM_001080517.3
p.S655R
c.1965T>A
1 paper
NM_001080517.3
p.S655R
c.1965T>G
4 papers
NM_001080517.3
p.L656*
c.1967T>A
4 papers
NM_001080517.3
p.L656*
c.1967T>G
2 papers
NM_001080517.3
p.E661delFs
c.1981delG
1 paper
NM_001080517.3
p.E661*
c.1981G>T
2 papers
NM_001080517.3
p.E661fs
c.1981_1982fs
1 paper
NM_001080517.3
p.E661V
c.1982A>T
1 paper
NM_001080517.3
p.L665delFs
c.1993delC
2 papers
NM_001080517.3
p.S668*
c.2003C>A
2 papers
NM_001080517.3
p.S668*
c.2003C>G
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