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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERVH48-1

ERVH48-1

3 papers

RefSeq Summary

Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is ...

Gene Aliases

HGNC Name

endogenous retrovirus group 48 member 1, envelope

HGNC Previous Symbols

C21orf105; NDUFV3-AS1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr21:42918558 G>A

NM_001308491.2

p.P150L

c.449C>T

Exome: 2.7% (AC=8339, hom=170)Genome: 2.6% (AC=3924, hom=81)9 overlapping SVs

1 paper

chr21:42919001 G>A

NM_001308491.2

p.A2A

c.6C>T

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:42918960 T>C

NM_001308491.2

p.K16R

c.47A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

1 paper

chr21:42918928 T>G

NM_001308491.2

p.I27L

c.79A>C

Exome: 3.3% (AC=14157, hom=302)Genome: 3.1% (AC=4684, hom=109)9 overlapping SVs

1 paper

chr21:42918622 T>G

NM_001308491.2

p.K129Q

c.385A>C

Exome: 0.0% (AC=134, hom=2)Genome: 0.3% (AC=524, hom=2)9 overlapping SVs

1 paper

chr21:42918613 G>C

NM_001308491.2

p.Q132E

c.394C>G

Exome: 0.3% (AC=778, hom=8)Genome: 1.4% (AC=2198, hom=54)9 overlapping SVs

1 paper

chr21:42918580 T>C

NM_001308491.2

p.T143A

c.427A>G

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=55, hom=0)9 overlapping SVs

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