Varaico: Literature-Extracted Genetic Variants

Gene:MSL3
Variant:p.Y189*

MSL3

51 papers

RefSeq Summary

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which e...

Pfam Domains

MSL3_chromo-likeaa 11–88UCSCMSL3 chromodomain-like
MRGaa 150–506UCSCMRG

Gene Aliases

HGNC Name

MSL complex subunit 3

HGNC Previous Symbol

MSL3L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_078629.4
p.Y189*
c.567C>G
Surrounding Variants
1 paper
NM_078629.4
p.Y189*
c.567C>A
1 paper
NM_078629.4
p.Y189insFs
c.566dupA
2 papers
NM_078629.4
p.Y189fs
c.565_566fs
3 papers
NM_078629.4
p.Y189delFs
c.566_567delAC
1 paper
NM_078629.4
p.Y190*
c.570C>A
1 paper
NM_078629.4
p.Y190*
c.570C>G
1 paper
NM_078629.4
p.Q183*
c.547C>T
1 paper
NM_078629.4
p.L197_V198delFs
c.590_593del4
1 paper
NM_078629.4
p.R196_L197Splc
c.589-1G>A
1 paper
NM_078629.4
p.L197*
c.590T>A
1 paper
NM_078629.4
p.L197*
c.590T>G
2 papers
NM_078629.4
p.Q203*
c.607C>T
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