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

2 papers

NM_000038.6

p.Q2804_I2805insAA

c.8410_8414ins6

Surrounding Variants

3 papers

NM_000038.6

p.Q2804_I2805insA

c.8410_8414ins3

1 paper

NM_000038.6

p.Q2804*

c.8410C>T

1 paper

NM_000038.6

p.Q2804P

c.8411A>C

1 paper

NM_000038.6

p.S2803F

c.8408C>T

3 papers

NM_000038.6

p.Q2804H

c.8412G>C

3 papers

NM_000038.6

p.Q2804H

c.8412G>T

1 paper

NM_000038.6

p.I2805_P2806insT

c.8413_8417ins3

1 paper

NM_000038.6

p.I2805L

c.8413A>C

1 paper

NM_000038.6

p.I2805F

c.8413A>T

1 paper

NM_000038.6

p.S2803P

c.8407T>C

2 papers

NM_000038.6

p.S2803_Q2804insA

c.8407_8411ins3

2 papers

NM_000038.6

p.P2802L

c.8405C>T