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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHBG

Variant:p.R84H

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

Selected Variant

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

Surrounding Variants

1 paper

chr1:156377363 C>T

NM_020407.5

p.R84C

c.250C>T

Ammonium_transp

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=4, hom=0)226 overlapping SVs

1 paper

chr1:156377369 G>T

NM_020407.5

p.G86C

c.256G>T

Ammonium_transp

Exome: n/aGenome: 0.0% (AC=2, hom=0)226 overlapping SVs

1 paper

chr1:156377356 C>A

NM_020407.5

p.F81L

c.243C>A

Ammonium_transp

Exome: 0.0% (AC=1, hom=0)Genome: n/a226 overlapping SVs

1 paper

chr1:156377356 C>G

NM_020407.5

p.F81L

c.243C>G

Ammonium_transp

Exome: 1.7% (AC=24156, hom=275)Genome: 1.2% (AC=1828, hom=18)226 overlapping SVs

1 paper

chr1:156377354 T>C

NM_020407.5

p.F81L

c.241T>C

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:156377345 C>T

NM_020407.5

p.L78F

c.232C>T

Ammonium_transp

Exome: 0.0% (AC=1, hom=0)Genome: n/a226 overlapping SVs

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

1 paper

chr1:156377389 C>T

NM_020407.5

p.F92F

c.276C>T

Ammonium_transp

Exome: 0.0% (AC=419, hom=2)Genome: 0.0% (AC=18, hom=0)226 overlapping SVs

1 paper

chr1:156377398 C>T

NM_020407.5

p.L95L

c.285C>T

Ammonium_transp

Exome: 0.0% (AC=1, hom=0)Genome: n/a226 overlapping SVs

1 paper

chr1:156377329 C>T

NM_020407.5

p.F72F

c.216C>T

Ammonium_transp

Exome: 0.1% (AC=828, hom=0)Genome: 0.0% (AC=57, hom=0)226 overlapping SVs

1 paper

chr1:156377399 CT>C

NM_020407.5

p.L96delFs

c.287delT

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:156377403 C>T

NM_020407.5

p.A97V

c.290C>T

Ammonium_transp

exact variant not in gnomAD226 overlapping SVs

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