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

2 papers

NM_182706.5

p.P1550L

c.4649C>T

Surrounding Variants

1 paper

NM_182706.5

p.P1548L

c.4643C>T

1 paper

NM_182706.5

p.S1541Y

c.4622C>A

1 paper

NM_182706.5

p.E1538K

c.4612G>A

3 papers

NM_182706.5

p.R1535Q

c.4604G>A

1 paper

NM_182706.5

p.G1526R

c.4576G>C

1 paper

NM_182706.5

p.L1520R

c.4559T>G

1 paper

NM_182706.5

p.L1554L

c.4662C>T

1 paper

NM_182706.5

p.G1555S

c.4663G>A

1 paper

NM_182706.5

p.Q1557delFs

c.4669delG

1 paper

NM_182706.5

p.Q1557fs

c.4669_4670fs

1 paper

NM_182706.5

p.R1515*

c.4543C>T

1 paper

NM_182706.5

p.S1561F

c.4682C>T