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.E814G

c.2441A>G

Surrounding Variants

1 paper

NM_182706.5

p.V811M

c.2431G>A

1 paper

NM_182706.5

p.Q808H

c.2424G>T

1 paper

NM_182706.5

p.Q808H

c.2424G>C

1 paper

NM_182706.5

p.V807A

c.2420T>C

1 paper

NM_182706.5

p.V823I

c.2467G>A

1 paper

NM_182706.5

p.G804S

c.2410G>A

1 paper

NM_182706.5

p.A803T

c.2407G>A

1 paper

NM_182706.5

p.E831_D832del2

c.2491_2495del6

1 paper

NM_182706.5

p.R840Q

c.2519G>A

1 paper

NM_182706.5

p.L844V

c.2530C>G

1 paper

NM_182706.5

p.P854L

c.2561C>T

1 paper

NM_182706.5

p.P854P

c.2562C>A