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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG4B

PLEKHG4B

52 papers

RefSeq Summary

This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017].

Pfam Domains

KIAA1755_Naa 18–197UCSCKIAA1755 N-terminal domain

RhoGEFaa 1165–1322UCSCRhoGEF domain

SOS1_NGEF_PHaa 1353–1458UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G4B

HGNC Alias Symbols

KIAA1909; ARHGEF48

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 72 variants

2 papers

chr5:113257 G>A

NM_052909.5

p.E18K

c.52G>A

KIAA1755_N

Exome: 0.0% (AC=64, hom=1)Genome: 0.0% (AC=74, hom=1)34 overlapping SVs

2 papers

chr5:140098 G>A

NM_052909.5

p.D287N

c.859G>A

Exome: 0.1% (AC=186, hom=0)Genome: 0.0% (AC=50, hom=0)30 overlapping SVs

2 papers

chr5:173991 G>A

NM_052909.5

p.R1432Q

c.4295G>A

SOS1_NGEF_PH

Exome: 52.9% (AC=771689, hom=210046)Genome: 41.0% (AC=61773, hom=14755)27 overlapping SVs

1 paper

chr5:92233 T>A

NM_052909.5

p.M1K

c.2T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr5:92248 C>T

NM_052909.5

p.A6V

c.17C>T

exact variant not in gnomAD34 overlapping SVs

1 paper

chr5:113399 T>C

NM_052909.5

p.F65S

c.194T>C

KIAA1755_N

exact variant not in gnomAD34 overlapping SVs

1 paper

chr5:113419 G>A

NM_052909.5

p.A72T

c.214G>A

KIAA1755_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr5:139736 G>A

NM_052909.5

p.W166*

c.497G>A

KIAA1755_N

exact variant not in gnomAD30 overlapping SVs

1 paper

chr5:139805 G>A

NM_052909.5

p.R189Q

c.566G>A

KIAA1755_N

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=5, hom=0)30 overlapping SVs

1 paper

chr5:140009 A>G

NM_052909.5

p.H257R

c.770A>G

Exome: 12.0% (AC=30989, hom=2335)Genome: 18.9% (AC=28685, hom=3786)30 overlapping SVs

1 paper

chr5:140154 T>G

NM_052909.5

p.C305W

c.915T>G

Exome: 0.5% (AC=2905, hom=13)Genome: 0.3% (AC=503, hom=1)30 overlapping SVs

1 paper

chr5:140214 C>G

NM_052909.5

p.T325T

c.975C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

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