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.E1427*

c.4279G>T

Surrounding Variants

2 papers

NM_182706.5

p.E1425K

c.4273G>A

1 paper

NM_182706.5

p.D1419D

c.4257C>T

2 papers

NM_182706.5

p.A1417T

c.4249G>A

1 paper

NM_182706.5

p.A1407A

c.4221G>A

2 papers

NM_182706.5

p.S1448A

c.4342T>G

1 paper

NM_182706.5

p.P1450P

c.4350A>G

1 paper

NM_182706.5

p.P1450fs

c.4348_4349fs

1 paper

NM_182706.5

p.L1452P

c.4355T>C

1 paper

NM_182706.5

p.G1453R

c.4357G>A

1 paper

NM_182706.5

p.E1390*

c.4168G>T

1 paper

NM_182706.5

p.Q1468R

c.4403A>G

1 paper

NM_182706.5

p.R1376H

c.4127G>A