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_005883.3

p.S933S

c.2799C>T

Surrounding Variants

1 paper

NM_005883.3

p.G935R

c.2803G>A

1 paper

NM_005883.3

p.G935R

c.2803G>C

1 paper

NM_005883.3

p.S923Y

c.2768C>A

1 paper

NM_005883.3

p.L947_A949delFs

c.2840_2846del7

1 paper

NM_005883.3

p.L947fs

c.2839_2840fs

3 papers

NM_005883.3

p.L947fs

c.2839_2840fs

1 paper

NM_005883.3

p.A917V

c.2750C>T

1 paper

NM_005883.3

p.S952*

c.2855C>A

1 paper

NM_005883.3

p.E955K

c.2863G>A

1 paper

NM_005883.3

p.P957_R958insTG

c.2869_2873ins6

1 paper

NM_005883.3

p.R963W

c.2887C>T

1 paper

NM_005883.3

p.R902_R903insG

c.2704_2708ins3