Varaico: Literature-Extracted Genetic Variants

Gene:OVOL2
Variant:p.L94L

OVOL2

52 papers

RefSeq Summary

This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with ...

Pfam Domains

zf-C2H2_6aa 118–144UCSCC2H2-type zinc finger
zf-C2H2_6aa 118–144UCSCC2H2-type zinc finger
zf-C2H2_4aa 147–170UCSCC2H2-type zinc finger
zf-C2H2aa 175–198UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

ovo like zinc finger 2

HGNC Previous Symbols

ZNF339; CHED1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021220.4
p.L94L
c.282G>A
Surrounding Variants
1 paper
NM_021220.4
p.R99C
c.295C>T
1 paper
NM_021220.4
p.E88*
c.262G>T
1 paper
NM_021220.4
p.A102T
c.304G>A
1 paper
NM_021220.4
p.G85S
c.253G>A
1 paper
NM_021220.4
p.R103_S104delFs
c.307_311del5
1 paper
NM_021220.4
p.R103_K107delFs
c.307_320del14
1 paper
NM_021220.4
p.T81A
c.241A>G
1 paper
NM_021220.4
p.A62A
c.186G>A
1 paper
NM_021220.4
p.G56D
c.167G>A
1 paper
NM_021220.4
p.D50N
c.148G>A
1 paper
NM_021220.4
p.D46E
c.138C>G
1 paper
NM_021220.4
p.G37D
c.110G>A
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