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.R948P

c.2843G>C

Surrounding Variants

1 paper

NM_182706.5

p.R948Q

c.2843G>A

1 paper

NM_182706.5

p.G952C

c.2854G>T

1 paper

NM_182706.5

p.P940R

c.2819C>G

1 paper

NM_182706.5

p.H961R

c.2882A>G

1 paper

NM_182706.5

p.V932I

c.2794G>A

1 paper

NM_182706.5

p.A931A

c.2793C>T

1 paper

NM_182706.5

p.A931_V932ins4

c.2791_2795ins12

1 paper

NM_182706.5

p.V969insFs

c.2906_2907insA

1 paper

NM_182706.5

p.A970fs

c.2908_2909fs

3 papers

NM_182706.5

p.G980R

c.2938G>C

4 papers

NM_182706.5

p.G980R

c.2938G>A

1 paper

NM_182706.5

p.A995S

c.2983G>T