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.L433delFs

c.1297_1298delAG

Surrounding Variants

2 papers

NM_182706.5

p.A440V

c.1319C>T

3 papers

NM_182706.5

p.D426N

c.1276G>A

1 paper

NM_182706.5

p.V445delFs

c.1334_1335delGA

2 papers

NM_182706.5

p.P454S

c.1360C>T

1 paper

NM_182706.5

p.D459N

c.1375G>A

1 paper

NM_182706.5

p.A463A

c.1389T>G

1 paper

NM_182706.5

p.A465V

c.1394C>T

1 paper

NM_182706.5

p.L424F

c.1270C>T

5 papers

NM_182706.5

p.P422L

c.1265C>T

1 paper

NM_182706.5

p.Q419K

c.1255C>A

1 paper

NM_182706.5

p.R405W

c.1213C>T

1 paper

NM_182706.5

p.A404S

c.1210G>T