Varaico: Literature-Extracted Genetic Variants

ARVCF

118 papers

RefSeq Summary

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are t...

Pfam Domains

Armaa 326–366UCSCArmadillo/beta-catenin-like repeat

Armaa 369–410UCSCArmadillo/beta-catenin-like repeat

Armaa 584–623UCSCArmadillo/beta-catenin-like repeat

Armaa 631–669UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

ARVCF delta catenin family member

HGNC Previous Name

armadillo repeat gene deleted in velocardiofacial syndrome

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001670.3

p.G588R

c.1762G>A

Surrounding Variants

1 paper

NM_001670.3

p.G588R

c.1762G>C

1 paper

NM_001670.3

p.V572M

c.1714G>A

1 paper

NM_001670.3

p.S606S

c.1818C>T

3 papers

NM_001670.3

p.R608C

c.1822C>T

1 paper

NM_001670.3

p.S567A

c.1699T>G

1 paper

NM_001670.3

p.D613N

c.1837G>A

2 papers

NM_001670.3

p.R560W

c.1678C>T

1 paper

NM_001670.3

p.S556S

c.1668G>A

1 paper

NM_001670.3

p.R541W

c.1621C>T

1 paper

NM_001670.3

p.R539Q

c.1616G>A

6 papers

NM_001670.3

p.R539*

c.1615C>T

1 paper

NM_001670.3

p.K520*

c.1558A>T