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.R196Q

c.587G>A

Surrounding Variants

1 paper

NM_001670.3

p.G192G

c.576C>T

2 papers

NM_001670.3

p.S200T

c.599G>C

1 paper

NM_001670.3

p.R211W

c.631C>T

5 papers

NM_001670.3

p.V175A

c.524T>C

4 papers

NM_001670.3

p.P220L

c.659C>T

1 paper

NM_001670.3

p.R165W

c.493C>T

1 paper

NM_001670.3

p.P230R

c.689C>G

1 paper

NM_001670.3

p.R233W

c.697C>T

2 papers

NM_001670.3

p.D150N

c.448G>A

1 paper

NM_001670.3

p.L148delFs

c.443_444delCA

2 papers

NM_001670.3

p.R248C

c.742C>T

1 paper

NM_001670.3

p.F254L

c.760T>C