Varaico: Literature-Extracted Genetic Variants

Gene:OSR2
Variant:p.W54C

OSR2

32 papers

RefSeq Summary

OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008].

Pfam Domains

zf-C2H2aa 172–194UCSCZinc finger, C2H2 type
zf-C2H2aa 172–194UCSCZinc finger, C2H2 type
zf-C2H2aa 200–222UCSCZinc finger, C2H2 type
zf-C2H2aa 200–222UCSCZinc finger, C2H2 type
zf-C2H2aa 228–250UCSCZinc finger, C2H2 type
zf-C2H2aa 228–250UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

odd-skipped related transciption factor 2

HGNC Alias Symbol

FLJ90037

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001142462.3
p.W54C
c.162G>T
Surrounding Variants
1 paper
NM_001142462.3
p.L56M
c.166C>A
1 paper
NM_001142462.3
p.Y58*
c.174T>A
1 paper
NM_001142462.3
p.Y58*
c.174T>G
1 paper
NM_001142462.3
p.E63V
c.188A>T
1 paper
NM_001142462.3
p.A45V
c.134C>T
1 paper
NM_001142462.3
p.L43L
c.129C>G
1 paper
NM_001142462.3
p.D35N
c.103G>A
1 paper
NM_001142462.3
p.Q76delFs
c.226_227delCA
1 paper
NM_001142462.3
p.Q76fs
c.226_227fs
1 paper
NM_001286841.2
p.D201G
c.602A>G
1 paper
NM_001142462.3
p.H104P
c.311A>C
1 paper
NM_001142462.3
p.V105A
c.314T>C
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