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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGDIB

ARHGDIB

29 papers

RefSeq Summary

Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, prolife...

Pfam Domains

Rho_GDIaa 9–198UCSCRHO protein GDP dissociation inhibitor

Gene Aliases

HGNC Name

Rho GDP dissociation inhibitor beta

HGNC Previous Symbols

RAP1GN1; GDIA2; GDID4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 22 variants

4 papers

chr12:14942624 C>G

NM_001175.7

p.A168A

c.504G>C

Rho_GDI

Exome: 53.5% (AC=782714, hom=211936)Genome: 51.5% (AC=78212, hom=20566)20 overlapping SVs

3 papers

chr12:14949865 C>G

NM_001175.7

p.V68L

c.202G>C

Rho_GDI

Exome: 0.5% (AC=6896, hom=22)Genome: 0.3% (AC=529, hom=2)20 overlapping SVs

2 papers

chr12:14942682 C>T

NM_001175.7

p.R149Q

c.446G>A

Rho_GDI

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=4, hom=0)20 overlapping SVs

2 papers

chr12:14942622 C>T

NM_001175.7

p.R169Q

c.506G>A

Rho_GDI

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=12, hom=0)20 overlapping SVs

1 paper

chr12:14950667 C>T

NM_001175.7

p.D16N

c.46G>A

Rho_GDI

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr12:14950637 G>A

NM_001175.7

p.P26S

c.76C>T

Rho_GDI

Exome: 0.0% (AC=106, hom=0)Genome: 0.0% (AC=10, hom=0)19 overlapping SVs

1 paper

chr12:14950622 A>C

NM_001175.7

p.S31A

c.91T>G

Rho_GDI

exact variant not in gnomAD19 overlapping SVs

1 paper

chr12:14950575 A>T

NM_001175.7

p.I46I

c.138T>A

Rho_GDI

exact variant not in gnomAD19 overlapping SVs

1 paper

chr12:14949881 C>T

NM_001175.7

p.P62P

c.186G>A

Rho_GDI

Exome: 0.0% (AC=10, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr12:14949862 C>T

NM_001175.7

p.V69I

c.205G>A

Rho_GDI

exact variant not in gnomAD20 overlapping SVs

1 paper

chr12:14949861 A>G

NM_001175.7

p.V69A

c.206T>C

Rho_GDI

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

1 paper

chr12:14949824 T>C

NM_001175.7

p.G81G

c.243A>G

Rho_GDI

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 overlapping SVs

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