Varaico: Literature-Extracted Genetic Variants

Gene:BOLL
Variant:p.S47R

BOLL

25 papers

RefSeq Summary

This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (de...

Pfam Domains

RRM_1aa 35–104UCSCRNA recognition motif
RRM_1aa 35–104UCSCRNA recognition motif

Gene Aliases

HGNC Name

boule RNA binding protein

HGNC Alias Symbol

BOULE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033030.6
p.S47R
c.141T>G
Surrounding Variants
2 papers
NM_033030.6
p.S47R
c.141T>A
1 paper
NM_033030.6
p.D48N
c.142G>A
2 papers
NM_033030.6
p.S47R
c.139A>C
1 paper
NM_033030.6
p.F53insFs
c.157_158insG
2 papers
NM_033030.6
p.G74Splc
c.221+48T>C
3 papers
NM_033030.6
p.G74Splc
c.221+68C>T
1 paper
NM_033030.6
p.V78I
c.232G>A
4 papers
NM_033030.6
p.Q87R
c.260A>G
1 paper
NM_033030.6
p.T29I
c.86C>T
3 papers
NM_033030.6
p.S9Y
c.26C>A
1 paper
NM_033030.6
p.D4E
c.12T>A
2 papers
NM_033030.6
p.Q2E
c.4C>G
NM_197970.3
p.Q14E
c.40C>G
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