Varaico: Literature-Extracted Genetic Variants

Gene:RBMXL1
Variant:p.Y214*

RBMXL1

94 papers

RefSeq Summary

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX ...

Pfam Domains

RRM_1aa 10–80UCSCRNA recognition motif
RBM1CTRaa 173–217UCSCRBM1CTR (NUC064) family

Gene Aliases

HGNC Name

RBMX like 1

HGNC Alias Symbol

KAT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001162536.3
p.Y214*
c.642T>A
Surrounding Variants
7 papers
NM_001162536.3
p.Y214*
c.642T>G
1 paper
NM_001162536.3
p.Y214H
c.640T>C
1 paper
NM_001162536.3
p.R223R
c.669A>G
4 papers
NM_001162536.3
p.V205D
c.614T>A
2 papers
NM_001162536.3
p.L199P
c.596T>C
1 paper
NM_001162536.3
p.T231T
c.693A>T
3 papers
NM_001162536.3
p.R196G
c.586A>G
4 papers
NM_001162536.3
p.D233A
c.698A>C
6 papers
NM_001162536.3
p.Y234C
c.701A>G
1 paper
NM_001162536.3
p.R239*
c.715C>T
2 papers
NM_001162536.3
p.L183V
c.547C>G
1 paper
NM_001162536.3
p.S173S
c.519C>T
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