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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBP4

GBP4

77 papers

RefSeq Summary

Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008].

Pfam Domains

GBPaa 33–296UCSCGuanylate-binding protein, N-terminal domain

GBP_Caa 298–594UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein 4

HGNC Alias Symbol

Mpa2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 83 variants

12 papers

chr1:89186388 T>C

NM_052941.5

p.E551G

c.1652A>G

GBP_C

Exome: 47.0% (AC=574944, hom=160811)Genome: 41.1% (AC=62508, hom=14418)238 overlapping SVs

10 papers

chr1:89186389 C>T

NM_052941.5

p.E551K

c.1651G>A

GBP_C

Exome: 46.4% (AC=550187, hom=155282)Genome: 41.1% (AC=62487, hom=14408)238 overlapping SVs

9 papers

chr1:89186419 A>T

NM_052941.5

p.Y541N

c.1621T>A

GBP_C

Exome: 44.8% (AC=503743, hom=141064)Genome: 41.2% (AC=62503, hom=14427)238 overlapping SVs

8 papers

chr1:89186414 C>A

NM_052941.5

p.M542I

c.1626G>T

GBP_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a238 overlapping SVs

8 papers

chr1:89186414 C>G

NM_052941.5

p.M542I

c.1626G>C

GBP_C

exact variant not in gnomAD238 overlapping SVs

8 papers

chr1:89186414 C>T

NM_052941.5

p.M542I

c.1626G>A

GBP_C

Exome: 42.5% (AC=449107, hom=124664)Genome: 41.2% (AC=62500, hom=14429)238 overlapping SVs

8 papers

chr1:89186405 C>A

NM_052941.5

p.M545I

c.1635G>T

GBP_C

Exome: 0.0% (AC=0, hom=0)Genome: n/a238 overlapping SVs

8 papers

chr1:89186405 C>G

NM_052941.5

p.M545I

c.1635G>C

GBP_C

Exome: 41.5% (AC=424255, hom=119431)Genome: 41.1% (AC=62481, hom=14417)238 overlapping SVs

8 papers

chr1:89186405 C>T

NM_052941.5

p.M545I

c.1635G>A

GBP_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a238 overlapping SVs

8 papers

chr1:89186404 C>T

NM_052941.5

p.E546K

c.1636G>A

GBP_C

Exome: 41.3% (AC=422530, hom=118810)Genome: 41.2% (AC=62499, hom=14416)238 overlapping SVs

7 papers

chr1:89186407 T>A

NM_052941.5

p.M545L

c.1633A>T

GBP_C

exact variant not in gnomAD238 overlapping SVs

7 papers

chr1:89186407 T>G

NM_052941.5

p.M545L

c.1633A>C

GBP_C

Exome: 42.3% (AC=442602, hom=124929)Genome: 41.1% (AC=62494, hom=14425)238 overlapping SVs

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