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

1 paper

NM_001670.3

p.A300_Y301insFs

c.900_901insC

Surrounding Variants

1 paper

NM_001670.3

p.D313N

c.937G>A

1 paper

NM_001670.3

p.R315W

c.943C>T

2 papers

NM_001670.3

p.R330Q

c.989G>A

1 paper

NM_001670.3

p.R350H

c.1049G>A

1 paper

NM_001670.3

p.L367fs

c.1099_1100fs

1 paper

NM_001670.3

p.R368W

c.1102C>T

1 paper

NM_001670.3

p.P370P

c.1110C>T

2 papers

NM_001670.3

p.V374M

c.1120G>A

1 paper

NM_001670.3

p.L385insFs

c.1154_1155ins5

1 paper

NM_001670.3

p.E388*

c.1162G>T

1 paper

NM_001670.3

p.F387_E388insFs

c.1161_1162insT

1 paper

NM_001670.3

p.R397R

c.1189C>A