Varaico: Literature-Extracted Genetic Variants

Gene:GZMH
Variant:p.L74_G75delFs

GZMH

33 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolyt...

Pfam Domains

Trypsinaa 21–239UCSCTrypsin

Gene Aliases

HGNC Name

granzyme H

HGNC Previous Symbol

CTSGL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033423.5
p.L74_G75delFs
c.222_223delCC
Surrounding Variants
1 paper
NM_033423.5
p.N71S
c.212A>G
1 paper
NM_033423.5
p.Q82R
c.245A>G
1 paper
NM_033423.5
p.R84P
c.251G>C
4 papers
NM_033423.5
p.R84Q
c.251G>A
4 papers
NM_033423.5
p.P94A
c.280C>G
1 paper
NM_033423.5
p.D108N
c.322G>A
1 paper
NM_033423.5
p.I109insFs
c.325dupA
1 paper
NM_033423.5
p.E115A
c.344A>C
1 paper
NM_033423.5
p.S131N
c.392G>A
1 paper
NM_033423.5
p.Q135R
c.404A>G
1 paper
NM_033423.5
p.P138S
c.412C>T
1 paper
NM_033423.5
p.S153N
c.458G>A
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