Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005883.3

p.G1723R

c.5167G>A

Surrounding Variants

2 papers

NM_005883.3

p.G1723R

c.5167G>C

2 papers

NM_005883.3

p.P1733insFs

c.5199dupC

1 paper

NM_005883.3

p.K1734fs

c.5200_5201fs

4 papers

NM_005883.3

p.K1734fs

c.5200_5201fs

2 papers

NM_005883.3

p.S1712T

c.5134T>A

2 papers

NM_005883.3

p.A1703E

c.5108C>A

1 paper

NM_005883.3

p.N1694_S1695del2

c.5080_5084del6

1 paper

NM_005883.3

p.T1781K

c.5342C>A

1 paper

NM_005883.3

p.R1653Q

c.4958G>A

1 paper

NM_005883.3

p.G1646D

c.4937G>A

1 paper

NM_005883.3

p.P1643A

c.4927C>G

1 paper

NM_005883.3

p.Q1804Q

c.5412G>A