Varaico: Literature-Extracted Genetic Variants

Gene:BCDIN3D
Variant:p.S288R

BCDIN3D

26 papers

RefSeq Summary

This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA...

Pfam Domains

Bin3aa 158–264UCSCBicoid-interacting protein 3 (Bin3)

Gene Aliases

HGNC Name

BCDIN3 domain containing RNA methyltransferase

HGNC Previous Name

BCDIN3 domain containing

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_181708.3
p.S288R
c.864T>G
Surrounding Variants
3 papers
NM_181708.3
p.S288R
c.864T>A
2 papers
NM_181708.3
p.S288R
c.862A>C
1 paper
NM_181708.3
p.Q266*
c.796C>T
1 paper
NM_181708.3
p.D256D
c.768C>T
1 paper
NM_181708.3
p.I237I
c.711C>A
1 paper
NM_181708.3
p.L179L
c.537A>G
1 paper
NM_181708.3
p.S165A
c.493T>G
2 papers
NM_181708.3
p.R142Q
c.425G>A
1 paper
NM_181708.3
p.D135A
c.404A>C
1 paper
NM_181708.3
p.R118G
c.352C>G
1 paper
NM_181708.3
p.K117K
c.351G>A
1 paper
NM_181708.3
p.V114V
c.342C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."