Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4

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
1–12 of 208 variants
6 papers
NM_020717.5
p.S1089L
c.3266C>T
5 papers
NM_020717.5
p.R684*
c.2050C>T
5 papers
NM_020717.5
p.K1129Q
c.3385A>C
4 papers
NM_020717.5
p.R146W
c.436C>T
4 papers
NM_020717.5
p.K1122Q
c.3364A>C
3 papers
NM_020717.5
p.H401Y
c.1201C>T
3 papers
NM_020717.5
p.K1122ins4
c.3365_3366ins12
3 papers
NM_020717.5
p.E1204G
c.3611A>G
3 papers
NM_020717.5
p.L1367F
c.4101G>T
3 papers
NM_020717.5
p.L1367F
c.4101G>C
3 papers
NM_020717.5
p.R1430C
c.4288C>T
2 papers
NM_020717.5
p.P5T
c.13C>A
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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."