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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GGTLC2

Variant:p.I22_S23del2

GGTLC2

27 papers

RefSeq Summary

This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain p...

Pfam Domains

G_glu_transpeptaa 1–252UCSCGamma-glutamyltranspeptidase

Gene Aliases

HGNC Name

gamma-glutamyltransferase light chain 2

HGNC Previous Symbol

GGTL4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:22646408 GATCTCC>G

NM_199127.3

p.I22_S23del2

c.64_68del6

G_glu_transpept

exact variant not in gnomAD86 overlapping SVs

Surrounding Variants

1 paper

chr22:22646410 TCTC>T

NM_199127.3

p.I22_S23del1

c.66_68delCTC

G_glu_transpept

Exome: 0.0% (AC=216, hom=0)Genome: 0.1% (AC=66, hom=0)86 overlapping SVs

1 paper

chr22:22646397 A>T

NM_199127.3

p.T18S

c.52A>T

G_glu_transpept

exact variant not in gnomAD86 overlapping SVs

1 paper

chr22:22646394 G>C

NM_199127.3

p.D17H

c.49G>C

G_glu_transpept

Exome: 2.0% (AC=28166, hom=58)Genome: 1.1% (AC=1570, hom=1)86 overlapping SVs

2 papers

chr22:22646379 G>T

NM_199127.3

p.A12S

c.34G>T

G_glu_transpept

Exome: 0.1% (AC=1952, hom=12)Genome: 0.2% (AC=310, hom=1)86 overlapping SVs

1 paper

chr22:22646376 C>T

NM_199127.3

p.R11W

c.31C>T

G_glu_transpept

Exome: 0.0% (AC=104, hom=2)Genome: 0.0% (AC=6, hom=0)86 overlapping SVs

2 papers

chr22:22646443 T>A

NM_199127.3

p.V33D

c.98T>A

G_glu_transpept

Exome: 7.4% (AC=96326, hom=12372)Genome: 12.7% (AC=16803, hom=1415)85 overlapping SVs

1 paper

chr22:22646447 T>C

NM_199127.3

p.D34D

c.102T>C

G_glu_transpept

Exome: 7.3% (AC=95206, hom=12229)Genome: 12.7% (AC=16743, hom=1411)85 overlapping SVs

1 paper

chr22:22646448 G>T

NM_199127.3

p.G35W

c.103G>T

G_glu_transpept

Exome: 0.1% (AC=1035, hom=108)Genome: 0.2% (AC=301, hom=11)85 overlapping SVs

1 paper

chr22:22646366 TGC>T

NM_199127.3

p.A8delFs

c.22_23delGC

G_glu_transpept

exact variant not in gnomAD86 overlapping SVs

1 paper

chr22:22646346 A>AT

NM_199127.3

p.M1insFs

c.2dupT

G_glu_transpept

exact variant not in gnomAD86 overlapping SVs

1 paper

chr22:22646475 G>A

NM_199127.3

p.A44T

c.130G>A

G_glu_transpept

Exome: 0.0% (AC=21, hom=1)Genome: 0.0% (AC=7, hom=0)85 overlapping SVs

1 paper

chr22:22646475 G>T

NM_199127.3

p.A44S

c.130G>T

G_glu_transpept

Exome: 0.0% (AC=580, hom=26)Genome: 0.0% (AC=44, hom=1)85 overlapping SVs

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