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

1–12 of 277 variants

6 papers

NM_182706.5

p.P305L

c.914C>T

5 papers

NM_182706.5

p.P422L

c.1265C>T

4 papers

NM_182706.5

p.G980R

c.2938G>A

4 papers

NM_182706.5

p.D1023N

c.3067G>A

4 papers

NM_182706.5

p.H1217P

c.3650A>C

3 papers

NM_182706.5

p.D426N

c.1276G>A

3 papers

NM_182706.5

p.G644V

c.1931G>T

3 papers

NM_182706.5

p.E664_E665del1

c.1992_1994delTCC

3 papers

NM_182706.5

p.E814G

c.2441A>G

3 papers

NM_182706.5

p.G980R

c.2938G>C

3 papers

NM_182706.5

p.P1043L

c.3128C>T

3 papers

NM_182706.5

p.P1332L

c.3995C>T