Varaico: Literature-Extracted Genetic Variants

Gene:BOLL
Variant:p.Q184H

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
1 paper
NM_033030.6
p.Q184H
c.552G>T
Surrounding Variants
1 paper
NM_033030.6
p.Q184H
c.552G>C
1 paper
NM_033030.6
p.P156P
c.468A>T
1 paper
NM_033030.6
p.Y136H
c.406T>C
5 papers
NM_033030.6
p.Y129C
c.386A>G
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