Varaico: Literature-Extracted Genetic Variants

Gene:SETD6
Variant:p.L202R

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.L202R
c.605T>G
Surrounding Variants
1 paper
NM_001160305.4
p.P200R
c.599C>G
1 paper
NM_001160305.4
p.L219insFs
c.656_657insA
1 paper
NM_001160305.4
p.I184T
c.551T>C
1 paper
NM_001160305.4
p.D180fs
c.538_539fs
1 paper
NM_001160305.4
p.K179insFs
c.536dupA
2 papers
NM_001160305.4
p.E161K
c.481G>A
1 paper
NM_001160305.4
p.P160del1
c.478_479delCCA
3 papers
NM_001160305.4
p.A264insFs
c.791_792insA
1 paper
NM_001160305.4
p.P136del1
c.406_407delCCG
1 paper
NM_001160305.4
p.Q119*
c.355C>T
1 paper
NM_001160305.4
p.E110delFs
c.328_329delGA
1 paper
NM_001160305.4
p.T102delFs
c.304_305delAC
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