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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WASF3

Variant:p.V29E

WASF3

72 papers

RefSeq Summary

This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occur...

Pfam Domains

SCAR_helicalaa 28–86UCSCSCAR helical domain

WAVE5_2ndaa 115–156UCSCWAVE5 second domain

WH2aa 437–464UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 3

HGNC Alias Symbols

WAVE3; SCAR3; KIAA0900

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr13:26642356 T>A

NM_006646.6

p.V29E

c.86T>A

SCAR_helical

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr13:26642376 G>A

NM_006646.6

p.A36T

c.106G>A

SCAR_helical

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)4 overlapping SVs

1 paper

chr13:26642329 A>C

NM_006646.6

p.E20A

c.59A>C

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

1 paper

chr13:26642385 C>T

NM_006646.6

p.R39C

c.115C>T

SCAR_helical

Exome: 0.0% (AC=185, hom=0)Genome: 0.0% (AC=10, hom=0)4 overlapping SVs

1 paper

chr13:26642308 T>A

NM_006646.6

p.L13*

c.38T>A

exact variant not in gnomAD4 overlapping SVs

1 paper

chr13:26642301 C>T

NM_006646.6

p.R11W

c.31C>T

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr13:26642281 T>TG

NM_006646.6

p.V4insFs

c.12dupG

exact variant not in gnomAD4 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."