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.V480I

c.1438G>A

Surrounding Variants

1 paper

NM_001670.3

p.H484R

c.1451A>G

1 paper

NM_001670.3

p.G485D

c.1454G>A

1 paper

NM_001670.3

p.I494_V495delFs

c.1481_1485del5

1 paper

NM_001670.3

p.E501K

c.1501G>A

1 paper

NM_001670.3

p.A513A

c.1539C>T

1 paper

NM_001670.3

p.K520*

c.1558A>T

1 paper

NM_001670.3

p.R456W

c.1366C>T

1 paper

NM_001670.3

p.A455S

c.1363G>T

1 paper

NM_001670.3

p.R440Q

c.1319G>A

2 papers

NM_001670.3

p.R440W

c.1318C>T

1 paper

NM_001670.3

p.R431H

c.1292G>A

1 paper

NM_001670.3

p.L424P

c.1271T>C