Varaico: Literature-Extracted Genetic Variants

Gene:GNRH1
Variant:p.I48L

GNRH1

113 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results...

Pfam Domains

GnRHaa 24–33UCSCGonadotropin-releasing hormone

Gene Aliases

HGNC Name

gonadotropin releasing hormone 1

HGNC Previous Symbols

GRH; LHRH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083111.2
p.I48L
c.142A>T
Surrounding Variants
2 papers
NM_001083111.2
p.I48R
c.143T>G
1 paper
NM_001083111.2
p.E47_I48Splc
c.142-2A>C
1 paper
NM_001083111.2
p.E51Q
c.151G>C
1 paper
NM_001083111.2
p.K50delFs
c.150delT
2 papers
NM_001083111.2
p.E51D
c.153G>T
2 papers
NM_001083111.2
p.E51D
c.153G>C
1 paper
NM_001083111.2
p.K50_E51delFs
c.150_151delCT
1 paper
NM_001083111.2
p.L55delFs
c.163delG
1 paper
NM_001083111.2
p.A56T
c.166G>A
2 papers
NM_001083111.2
p.E57D
c.171A>T
3 papers
NM_001083111.2
p.T58S
c.172A>T
1 paper
NM_001083111.2
p.T58A
c.172A>G
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