Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.P959L

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.P959L
c.2876C>T
Surrounding Variants
1 paper
NM_001080517.3
p.R961K
c.2882G>A
1 paper
NM_001080517.3
p.G951R
c.2851G>A
1 paper
NM_001080517.3
p.G951R
c.2851G>C
1 paper
NM_001080517.3
p.N972insFs
c.2915dupA
5 papers
NM_001080517.3
p.S973*
c.2918C>A
7 papers
NM_001080517.3
p.S973*
c.2918C>G
1 paper
NM_001080517.3
p.A976G
c.2927C>G
1 paper
NM_001080517.3
p.F977delFs
c.2931delT
1 paper
NM_001080517.3
p.F977I
c.2929T>A
1 paper
NM_001080517.3
p.H941D
c.2821C>G
1 paper
NM_001080517.3
p.R978fs
c.2932_2933fs
1 paper
NM_001080517.3
p.L936_L937Fs
c.2807_2809delinsAAFs
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