Varaico: Literature-Extracted Genetic Variants

SCRIB

209 papers

RefSeq Summary

This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in ...

Pfam Domains

LRR_8aa 36–94UCSCLeucine rich repeat

LRR_14aa 123–228UCSCLeucine-rich repeat region

LRR_14aa 190–328UCSCLeucine-rich repeat region

PDZaa 728–812UCSCPDZ domain

PDZaa 863–947UCSCPDZ domain

PDZaa 1004–1090UCSCPDZ domain

Gene Aliases

HGNC Name

scribble planar cell polarity protein

HGNC Alias Symbols

KIAA0147; SCRB1; Vartul

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182706.5

p.R1120insFs

c.3359_3360insC

Surrounding Variants

1 paper

NM_182706.5

p.R1120_G1121insFs

c.3360_3361insT

1 paper

NM_182706.5

p.R1120fs

c.3358_3359fs

1 paper

NM_182706.5

p.G1121fs

c.3361_3362fs

1 paper

NM_182706.5

p.G1118insFs

c.3354dupT

1 paper

NM_182706.5

p.A1119fs

c.3355_3356fs

1 paper

NM_182706.5

p.H1122fs

c.3364_3365fs

1 paper

NM_182706.5

p.H1122delFs

c.3365delT

1 paper

NM_182706.5

p.A1123fs

c.3367_3368fs

1 paper

NM_182706.5

p.A1123T

c.3367G>A

1 paper

NM_182706.5

p.A1123delFs

c.3367delC

1 paper

NM_182706.5

p.R1110G

c.3328A>G

1 paper

NM_182706.5

p.G1108E

c.3323G>A