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.P1349S

c.4045C>T

Surrounding Variants

1 paper

NM_182706.5

p.P1349L

c.4046C>T

1 paper

NM_182706.5

p.G1344R

c.4030G>A

1 paper

NM_182706.5

p.R1357Q

c.4070G>A

1 paper

NM_182706.5

p.Q1358H

c.4074G>T

1 paper

NM_182706.5

p.Q1358H

c.4074G>C

1 paper

NM_182706.5

p.R1366R

c.4098C>T

1 paper

NM_182706.5

p.V1367M

c.4099G>A

1 paper

NM_182706.5

p.R1376H

c.4127G>A

1 paper

NM_182706.5

p.E1390*

c.4168G>T

2 papers

NM_182706.5

p.P1337S

c.4009C>T

1 paper

NM_182706.5

p.E1334_D1335del2

c.4000_4004del6

1 paper

NM_182706.5

p.E1334_D1335del1

c.4002_4004delTCC