Varaico: Literature-Extracted Genetic Variants

Gene:SETD6
Variant:p.L89L

SETD6

32 papers

RefSeq Summary

This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous pr...

Pfam Domains

SETaa 74–286UCSCSET domain
Rubis-subs-bindaa 329–465UCSCRubisco LSMT substrate-binding

Gene Aliases

HGNC Name

SET domain containing 6, protein lysine methyltransferase

HGNC Alias Symbol

FLJ21148

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001160305.4
p.L89L
c.265T>C
Surrounding Variants
1 paper
NM_001160305.4
p.F90_V91del2
c.268_272del6
1 paper
NM_001160305.4
p.F90_V91delFs
c.270_271delCG
1 paper
NM_001160305.4
p.T102delFs
c.304_305delAC
1 paper
NM_001160305.4
p.E110delFs
c.328_329delGA
1 paper
NM_001160305.4
p.T58S
c.173C>G
1 paper
NM_001160305.4
p.R54delFs
c.160delC
1 paper
NM_001160305.4
p.R47Q
c.140G>A
1 paper
NM_001160305.4
p.G46delFs
c.136delG
1 paper
NM_001160305.4
p.E42G
c.125A>G
1 paper
NM_001160305.4
p.R30_R31delFs
c.90_91delGC
1 paper
NM_001160305.4
p.C29F
c.86G>T
1 paper
NM_001160305.4
p.Q119*
c.355C>T
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