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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHBG

RHBG

85 papers

RefSeq Summary

This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammoni...

Pfam Domains

Ammonium_transpaa 25–429UCSCAmmonium Transporter Family

Gene Aliases

HGNC Name

Rh family B glycoprotein

HGNC Alias Symbol

SLC42A2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 76 variants

9 papers

chr1:156377340 G>A

NM_020407.5

p.G76D

c.227G>A

Ammonium_transp

Exome: 42.3% (AC=617935, hom=135516)Genome: 35.9% (AC=54630, hom=10687)226 overlapping SVs

6 papers

chr1:156384556 T>TC

NM_020407.5

p.S422insFs

c.1265dupC

Ammonium_transp

Exome: 71.8% (AC=1029010, hom=372949)Genome: 64.2% (AC=97311, hom=32780)226 overlapping SVs

5 papers

chr1:156369269 G>A

NM_020407.5

p.R7H

c.20G>A

exact variant not in gnomAD226 overlapping SVs

5 papers

chr1:156378043 T>A

NM_020407.5

p.V143D

c.428T>A

Ammonium_transp

Exome: 24.0% (AC=345450, hom=42513)Genome: 23.5% (AC=35635, hom=4363)226 overlapping SVs

5 papers

chr1:156384575 A>G

NM_020407.5

p.H428R

c.1283A>G

Ammonium_transp

Exome: 55.2% (AC=794474, hom=224746)Genome: 64.7% (AC=98266, hom=33381)226 overlapping SVs

4 papers

chr1:156381908 G>A

NM_020407.5

p.G315R

c.943G>A

Ammonium_transp

Exome: 44.6% (AC=650189, hom=147704)Genome: 48.4% (AC=73562, hom=18171)226 overlapping SVs

4 papers

chr1:156381908 G>C

NM_020407.5

p.G315R

c.943G>C

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

3 papers

chr1:156382152 C>CT

NM_020407.5

p.L355insFs

c.1064dupT

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

3 papers

chr1:156384565 GAC>N

NM_020407.5

p.D425fs

c.1273_1274fs

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

2 papers

chr1:156377364 G>A

NM_020407.5

p.R84H

c.251G>A

Ammonium_transp

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=5, hom=0)226 overlapping SVs

2 papers

chr1:156377462 G>T

NM_020407.5

p.G117C

c.349G>T

Ammonium_transp

Exome: 0.0% (AC=413, hom=2)Genome: 0.0% (AC=39, hom=0)226 overlapping SVs

2 papers

chr1:156378136 T>G

NM_020407.5

p.L174R

c.521T>G

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

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