Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.S683*

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.S683*
c.2048C>G
Surrounding Variants
1 paper
NM_001080517.3
p.S683*
c.2048C>A
2 papers
NM_001080517.3
p.G676fs
c.2026_2027fs
1 paper
NM_001080517.3
p.R691C
c.2071C>T
2 papers
NM_001080517.3
p.T675_G676delFs
c.2025_2026delAG
1 paper
NM_001080517.3
p.Y696*
c.2088C>A
1 paper
NM_001080517.3
p.Y696*
c.2088C>G
1 paper
NM_001080517.3
p.G669A
c.2006G>C
5 papers
NM_001080517.3
p.G669R
c.2005G>A
5 papers
NM_001080517.3
p.G669R
c.2005G>C
1 paper
NM_001080517.3
p.K698R
c.2093A>G
2 papers
NM_001080517.3
p.S668*
c.2003C>A
2 papers
NM_001080517.3
p.S668*
c.2003C>G
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