Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.M1V

GLIS3

219 papers

RefSeq Summary

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of t...

Pfam Domains

zf-C2H2_15aa 381–410UCSCC2H2 zinc finger
zf-C2H2_15aa 381–410UCSCC2H2 zinc finger
zf-C2H2aa 412–436UCSCZinc finger, C2H2 type
zf-C2H2aa 412–436UCSCZinc finger, C2H2 type
zf-C2H2aa 442–466UCSCZinc finger, C2H2 type
zf-C2H2aa 442–466UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLIS family zinc finger 3

HGNC Previous Symbol

ZNF515

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001042413.2
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001042413.2
p.M1insFs
c.2dupT
1 paper
NM_001042413.2
p.M1I
c.3G>A
1 paper
NM_001042413.2
p.G3delFs
c.8delC
1 paper
NM_001042413.2
p.H11Y
c.31C>T
1 paper
NM_001042413.2
p.R12W
c.34C>T
1 paper
NM_001042413.2
p.Q18*
c.52C>T
1 paper
NM_001042413.2
p.P17delFs
c.51delT
1 paper
NM_001042413.2
p.G19V
c.56G>T
1 paper
NM_001042413.2
p.R21T
c.62G>C
1 paper
NM_001042413.2
p.M22V
c.64A>G
1 paper
NM_001042413.2
p.M22insFs
c.65_66insT
1 paper
NM_001042413.2
p.S24R
c.70A>C
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