Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.G1282R

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.G1282R
c.3844G>C
Surrounding Variants
1 paper
NM_001080517.3
p.G1282R
c.3844G>A
1 paper
NM_001080517.3
p.G1282delFs
c.3846delA
2 papers
NM_001080517.3
p.N1283fs
c.3847_3848fs
7 papers
NM_001080517.3
p.N1283insFs
c.3848_3849insC
2 papers
NM_001080517.3
p.N1283delFs
c.3849delC
6 papers
NM_001080517.3
p.S1286delFs
c.3856delT
2 papers
NM_001080517.3
p.S1286fs
c.3856_3857fs
8 papers
NM_001080517.3
p.S1286fs
c.3856_3857fs
1 paper
NM_001080517.3
p.S1292L
c.3875C>T
1 paper
NM_001080517.3
p.G1271V
c.3812G>T
1 paper
NM_001080517.3
p.F1262fs
c.3784_3785fs
1 paper
NM_001080517.3
p.P1261insFs
c.3783dupC
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