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.L809delFs

c.2426_2427delGA

Surrounding Variants

2 papers

NM_001670.3

p.L809fs

c.2425_2426fs

1 paper

NM_001670.3

p.A805G

c.2414C>G

1 paper

NM_001670.3

p.S813Splc

c.2438+9G>A

1 paper

NM_001670.3

p.L797F

c.2389C>T

1 paper

NM_001670.3

p.N793_A794del2

c.2377_2381del6

1 paper

NM_001670.3

p.V787V

c.2361G>A

1 paper

NM_001670.3

p.V816G

c.2447T>G

1 paper

NM_001670.3

p.R817H

c.2450G>A

1 paper

NM_001670.3

p.A821V

c.2462C>T

2 papers

NM_001670.3

p.A822V

c.2465C>T

1 paper

NM_001670.3

p.P767L

c.2300C>T

1 paper

NM_001670.3

p.P764L

c.2291C>T