Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.W784*

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.W784*
c.2351G>A
Surrounding Variants
1 paper
NM_001080517.3
p.W784C
c.2352G>C
1 paper
NM_001080517.3
p.W784C
c.2352G>T
2 papers
NM_001080517.3
p.R783H
c.2348G>A
1 paper
NM_001080517.3
p.I785T
c.2354T>C
3 papers
NM_001080517.3
p.R783fs
c.2347_2348fs
1 paper
NM_001080517.3
p.K786*
c.2356A>T
2 papers
NM_001080517.3
p.K782_R783Splc
c.2347-1G>A
12 papers
NM_001080517.3
p.K782_R783Splc
c.2347-7A>G
1 paper
NM_001080517.3
p.M793V
c.2377A>G
1 paper
NM_001080517.3
p.S798F
c.2393C>T
1 paper
NM_001080517.3
p.V799fs
c.2395_2396fs
1 paper
NM_001080517.3
p.Q806*
c.2416C>T
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