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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GZMM

GZMM

45 papers

RefSeq Summary

Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytop...

Pfam Domains

Trypsinaa 1–210UCSCTrypsin

Gene Aliases

HGNC Name

granzyme M

HGNC Alias Symbols

MET1; LMET1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 44 variants

2 papers

chr19:547333 C>T

NM_005317.4

p.R37C

c.109C>T

Trypsin

Exome: 0.0% (AC=105, hom=0)Genome: 0.0% (AC=66, hom=0)15 overlapping SVs

2 papers

chr19:547346 C>T

NM_005317.4

p.A41V

c.122C>T

Trypsin

Exome: 0.3% (AC=3812, hom=12)Genome: 0.7% (AC=1052, hom=11)15 overlapping SVs

2 papers

chr19:547412 C>T

NM_005317.4

p.T63M

c.188C>T

Trypsin

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

2 papers

chr19:549171 C>T

NM_005317.4

p.Q200*

c.598C>T

Trypsin

Exome: 0.6% (AC=8260, hom=42)Genome: 0.5% (AC=731, hom=6)15 overlapping SVs

2 papers

chr19:549667 G>A

NM_005317.4

p.R217Q

c.650G>A

Trypsin

Exome: 0.8% (AC=11058, hom=314)Genome: 2.3% (AC=3548, hom=105)16 overlapping SVs

2 papers

chr19:549678 A>G

NM_005317.4

p.R221G

c.661A>G

Trypsin

Exome: 99.1% (AC=1448271, hom=717651)Genome: 99.3% (AC=151225, hom=75082)16 overlapping SVs

1 paper

chr19:544072 A>G

NM_005317.4

p.M1V

c.1A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=8, hom=0)13 overlapping SVs

1 paper

chr19:544074 G>A

NM_005317.4

p.M1I

c.3G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr19:544079 C>G

NM_005317.4

p.A3G

c.8C>G

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:544091 C>T

NM_005317.4

p.S7L

c.20C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:544104 GGCCCTGGGGGCCCTGTCA>G

NM_005317.4

p.A12_S17del0

c.34_51del18

Exome: 0.2% (AC=2602, hom=6)Genome: 0.1% (AC=205, hom=1)13 overlapping SVs

1 paper

chr19:547329 C>A

NM_005317.4

p.H35Q

c.105C>A

Trypsin

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

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