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

1 paper

NM_001351273.1

p.G1939A

c.5816G>C

Surrounding Variants

1 paper

NM_001351273.1

p.R1938P

c.5813G>C

NM_005883.3

p.R1939P

c.5816G>C

1 paper

NM_005883.3

p.R1938P

c.5813G>C

1 paper

NM_005883.3

p.R1956P

c.5867G>C

1 paper

NM_005883.3

p.T1959P

c.5875A>C

1 paper

NM_005883.3

p.V1975A

c.5924T>C

1 paper

NM_005883.3

p.R1988H

c.5963G>A

1 paper

NM_005883.3

p.P1892delFs

c.5675delC

1 paper

NM_005883.3

p.S2001_R2005delFs

c.6001_6014del14

1 paper

NM_005883.3

p.S2001fs

c.6001_6002fs

4 papers

NM_005883.3

p.G2003S

c.6007G>A

1 paper

NM_005883.3

p.R2006H

c.6017G>A

1 paper

NM_005883.3

p.S2009P

c.6025T>C