Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.L936_L937Fs

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.L936_L937Fs
c.2807_2809delinsAAFs
Surrounding Variants
1 paper
NM_001080517.3
p.L936fs
c.2806_2807fs
1 paper
NM_001080517.3
p.H941D
c.2821C>G
1 paper
NM_001080517.3
p.C930fs
c.2788_2789fs
1 paper
NM_001080517.3
p.C930insFs
c.2788dupT
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.L917fs
c.2749_2750fs
1 paper
NM_001080517.3
p.L917delFs
c.2750delT
1 paper
NM_001080517.3
p.P959L
c.2876C>T
5 papers
NM_001080517.3
p.R912*
c.2734C>T
NM_001292043.2
p.R814*
c.2440C>T
1 paper
NM_001080517.3
p.R961K
c.2882G>A
1 paper
NM_001080517.3
p.N972insFs
c.2915dupA
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