Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.R684*

SHROOM4

133 papers

RefSeq Summary

This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in ...

Pfam Domains

PDZaa 11–89UCSCPDZ domain
ASD2aa 1233–1486UCSCApx/Shroom domain ASD2

Gene Aliases

HGNC Name

shroom family member 4

HGNC Alias Symbols

KIAA1202; Shrm4; SHAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_020717.5
p.R684*
c.2050C>T
Surrounding Variants
1 paper
NM_020717.5
p.L681L
c.2043A>G
1 paper
NM_020717.5
p.P691T
c.2071C>A
1 paper
NM_020717.5
p.A671P
c.2011G>C
1 paper
NM_020717.5
p.L668L
c.2004C>T
1 paper
NM_020717.5
p.H716L
c.2147A>T
1 paper
NM_020717.5
p.H716H
c.2148T>C
1 paper
NM_020717.5
p.H725Y
c.2173C>T
2 papers
NM_020717.5
p.S641F
c.1922C>T
1 paper
NM_020717.5
p.S638C
c.1913C>G
1 paper
NM_020717.5
p.E731G
c.2192A>G
1 paper
NM_020717.5
p.P736L
c.2207C>T
2 papers
NM_020717.5
p.P627S
c.1879C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."