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

3 papers

NM_182706.5

p.E664_E665del1

c.1992_1994delTCC

Surrounding Variants

1 paper

NM_182706.5

p.E666del1

c.1996_1997delCTC

1 paper

NM_182706.5

p.E673insFs

c.2018_2019insA

1 paper

NM_182706.5

p.A651T

c.1951G>A

3 papers

NM_182706.5

p.G644V

c.1931G>T

1 paper

NM_182706.5

p.G643G

c.1929G>A

1 paper

NM_182706.5

p.V640G

c.1919T>G

1 paper

NM_182706.5

p.D635G

c.1904A>G

1 paper

NM_182706.5

p.V698L

c.2092G>T

1 paper

NM_182706.5

p.V698L

c.2092G>C

1 paper

NM_182706.5

p.E623K

c.1867G>A

1 paper

NM_182706.5

p.K618R

c.1853A>G

1 paper

NM_182706.5

p.R599K

c.1796G>A