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.R888Q

c.2663G>A

Surrounding Variants

1 paper

NM_001670.3

p.D899Splc

c.2695+1G>A

1 paper

NM_001670.3

p.D877E

c.2631C>G

1 paper

NM_001670.3

p.D877E

c.2631C>A

1 paper

NM_001670.3

p.T872K

c.2615C>A

1 paper

NM_001670.3

p.A853V

c.2558C>T

1 paper

NM_001670.3

p.A852A

c.2556T>C

4 papers

NM_001670.3

p.R906Q

c.2717G>A

1 paper

NM_001670.3

p.R906fs

c.2716_2717fs

1 paper

NM_001670.3

p.R909W

c.2725C>T

1 paper

NM_001670.3

p.R909Q

c.2726G>A

2 papers

NM_001670.3

p.R912W

c.2734C>T

1 paper

NM_001670.3

p.S916F

c.2747C>T