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.G333fs

c.997_998fs

Surrounding Variants

1 paper

NM_182706.5

p.G333delFs

c.998delC

1 paper

NM_182706.5

p.G332R

c.994G>C

1 paper

NM_182706.5

p.G332R

c.994G>A

1 paper

NM_182706.5

p.R321L

c.962G>T

1 paper

NM_182706.5

p.V349I

c.1045G>A

1 paper

NM_182706.5

p.L311insFs

c.931_932ins4

6 papers

NM_182706.5

p.P305L

c.914C>T

1 paper

NM_182706.5

p.A366T

c.1096G>A

1 paper

NM_182706.5

p.A366V

c.1097C>T

1 paper

NM_182706.5

p.R369C

c.1105C>T

1 paper

NM_182706.5

p.P374S

c.1120C>T

1 paper

NM_182706.5

p.A376V

c.1127C>T