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.S1225C

c.3674C>G

Surrounding Variants

1 paper

NM_182706.5

p.R1229Q

c.3686G>A

1 paper

NM_182706.5

p.R1218L

c.3653G>T

1 paper

NM_182706.5

p.R1218W

c.3652C>T

4 papers

NM_182706.5

p.H1217P

c.3650A>C

1 paper

NM_182706.5

p.L1242V

c.3724C>G

1 paper

NM_182706.5

p.G1244E

c.3731G>A

1 paper

NM_182706.5

p.G1250delFs

c.3750delC

1 paper

NM_182706.5

p.E1252fs

c.3754_3755fs

1 paper

NM_182706.5

p.A1257T

c.3769G>A

1 paper

NM_182706.5

p.K1265N

c.3795G>T

1 paper

NM_182706.5

p.K1265N

c.3795G>C

1 paper

NM_182706.5

p.R1269C

c.3805C>T