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

1–12 of 126 variants

6 papers

NM_001670.3

p.R539*

c.1615C>T

5 papers

NM_001670.3

p.V175A

c.524T>C

4 papers

NM_001670.3

p.P220L

c.659C>T

4 papers

NM_001670.3

p.R906Q

c.2717G>A

3 papers

NM_001670.3

p.R608C

c.1822C>T

3 papers

NM_001670.3

p.V829A

c.2486T>C

2 papers

NM_001670.3

p.D150N

c.448G>A

2 papers

NM_001670.3

p.R196Q

c.587G>A

2 papers

NM_001670.3

p.S200T

c.599G>C

2 papers

NM_001670.3

p.R248C

c.742C>T

2 papers

NM_001670.3

p.R330Q

c.989G>A

2 papers

NM_001670.3

p.V374M

c.1120G>A