Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.L1972_I1975del4

c.5914_5924del12

Surrounding Variants

5 papers

NM_000038.6

p.S1971Y

c.5912C>A

10 papers

NM_000038.6

p.S1971C

c.5912C>G

1 paper

NM_000038.6

p.L1972F

c.5914C>T

2 papers

NM_000038.6

p.S1970R

c.5910T>A

2 papers

NM_000038.6

p.S1970R

c.5910T>G

1 paper

NM_000038.6

p.S1970N

c.5909G>A

2 papers

NM_000038.6

p.S1970R

c.5908A>C

1 paper

NM_000038.6

p.S1973delFs

c.5917delA

1 paper

NM_000038.6

p.S1973fs

c.5917_5918fs

2 papers

NM_000038.6

p.L1969L

c.5907G>C

1 paper

NM_000038.6

p.S1973T

c.5918G>C

3 papers

NM_000038.6

p.D1974_I1975del2

c.5920_5924del6