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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBP6

GBP6

69 papers

RefSeq Summary

Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008].

Pfam Domains

GBPaa 18–281UCSCGuanylate-binding protein, N-terminal domain

GBP_Caa 283–579UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein family member 6

HGNC Alias Symbol

DKFZp686G0786

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 70 variants

9 papers

chr1:89381813 G>T

NM_198460.3

p.A331S

c.991G>T

GBP_C

Exome: 75.2% (AC=1098727, hom=414228)Genome: 79.7% (AC=121141, hom=48473)241 overlapping SVs

9 papers

chr1:89381885 A>G

NM_198460.3

p.M355V

c.1063A>G

GBP_C

Exome: 75.2% (AC=1098960, hom=414449)Genome: 79.7% (AC=121228, hom=48512)241 overlapping SVs

8 papers

chr1:89381852 C>T

NM_198460.3

p.L344F

c.1030C>T

GBP_C

Exome: 75.2% (AC=1098968, hom=414439)Genome: 79.7% (AC=121170, hom=48490)241 overlapping SVs

8 papers

chr1:89384183 A>T

NM_198460.3

p.D520V

c.1559A>T

GBP_C

Exome: 88.5% (AC=1293528, hom=572981)Genome: 89.4% (AC=136075, hom=60907)241 overlapping SVs

5 papers

chr1:89369650 G>A

NM_198460.3

p.E99K

c.295G>A

GBP

Exome: 0.9% (AC=12776, hom=96)Genome: 0.8% (AC=1237, hom=16)240 overlapping SVs

4 papers

chr1:89382680 A>T

NM_198460.3

p.K390M

c.1169A>T

GBP_C

exact variant not in gnomAD241 overlapping SVs

3 papers

chr1:89378589 G>T

NM_198460.3

p.E201*

c.601G>T

GBP

exact variant not in gnomAD241 overlapping SVs

2 papers

chr1:89380433 A>G

NM_198460.3

p.R225G

c.673A>G

GBP

exact variant not in gnomAD241 overlapping SVs

2 papers

chr1:89380593 C>T

NM_198460.3

p.T278I

c.833C>T

GBP

Exome: 9.2% (AC=133755, hom=7287)Genome: 7.1% (AC=10740, hom=523)242 overlapping SVs

1 paper

chr1:89368553 T>A

NM_198460.3

p.M1K

c.2T>A

exact variant not in gnomAD240 overlapping SVs

1 paper

chr1:89368650 G>C

NM_198460.3

p.K33N

c.99G>C

GBP

exact variant not in gnomAD240 overlapping SVs

1 paper

chr1:89368650 G>T

NM_198460.3

p.K33N

c.99G>T

GBP

Exome: n/aGenome: 0.0% (AC=1, hom=0)240 overlapping SVs

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