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.G1011G

c.3033G>A

Surrounding Variants

1 paper

NM_182706.5

p.P1008A

c.3022C>G

1 paper

NM_182706.5

p.R1006C

c.3016C>T

4 papers

NM_182706.5

p.D1023N

c.3067G>A

1 paper

NM_182706.5

p.D1023D

c.3069C>T

1 paper

NM_182706.5

p.V1031_Q1032delFs

c.3093_3096del4

1 paper

NM_182706.5

p.I1038V

c.3112A>G

1 paper

NM_182706.5

p.V1041A

c.3122T>C

3 papers

NM_182706.5

p.P1043L

c.3128C>T

2 papers

NM_182706.5

p.R1044Q

c.3131G>A

2 papers

NM_182706.5

p.R1049C

c.3145C>T

2 papers

NM_182706.5

p.V1061_N1062insFs

c.3183_3184insC

1 paper

NM_182706.5

p.P1081T

c.3241C>A