Varaico: Literature-Extracted Genetic Variants

Gene:RBMXL1
Variant:p.S161P

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
2 papers
NM_001162536.3
p.S161P
c.481T>C
Surrounding Variants
4 papers
NM_001162536.3
p.G158V
c.473G>T
1 paper
NM_001162536.3
p.P167A
c.499C>G
1 paper
NM_001162536.3
p.R172H
c.515G>A
1 paper
NM_001162536.3
p.S173S
c.519C>T
1 paper
NM_001162536.3
p.R144M
c.431G>T
2 papers
NM_001162536.3
p.L183V
c.547C>G
2 papers
NM_001162536.3
p.D131D
c.393T>C
3 papers
NM_001162536.3
p.R196G
c.586A>G
2 papers
NM_001162536.3
p.L199P
c.596T>C
1 paper
NM_001162536.3
p.G118R
c.352G>C
1 paper
NM_001162536.3
p.G118R
c.352G>A
4 papers
NM_001162536.3
p.V205D
c.614T>A
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