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.R599K

c.1796G>A

Surrounding Variants

1 paper

NM_182706.5

p.G598R

c.1792G>C

1 paper

NM_182706.5

p.G598R

c.1792G>A

2 papers

NM_182706.5

p.P592S

c.1774C>T

1 paper

NM_182706.5

p.A591T

c.1771G>A

1 paper

NM_182706.5

p.G587delFs

c.1759_1760delCC

1 paper

NM_182706.5

p.E586A

c.1757A>C

1 paper

NM_182706.5

p.E586K

c.1756G>A

1 paper

NM_182706.5

p.K618R

c.1853A>G

1 paper

NM_182706.5

p.E623K

c.1867G>A

1 paper

NM_182706.5

p.A575T

c.1723G>A

1 paper

NM_182706.5

p.D574H

c.1720G>C

1 paper

NM_182706.5

p.F571F

c.1713C>T