Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.E386delFs

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
1 paper
NM_020717.5
p.E386delFs
c.1156_1157delTC
Surrounding Variants
3 papers
NM_020717.5
p.H401Y
c.1201C>T
2 papers
NM_020717.5
p.I403L
c.1207A>T
2 papers
NM_020717.5
p.I403L
c.1207A>C
1 paper
NM_020717.5
p.T406R
c.1217C>G
1 paper
NM_020717.5
p.R409G
c.1225C>G
1 paper
NM_020717.5
p.P413S
c.1237C>T
1 paper
NM_020717.5
p.E414K
c.1240G>A
1 paper
NM_020717.5
p.Q346_G354del9
c.1036_1061del27
1 paper
NM_020717.5
p.Q353H
c.1059G>T
1 paper
NM_020717.5
p.Q353H
c.1059G>C
2 papers
NM_020717.5
p.S351R
c.1053C>G
2 papers
NM_020717.5
p.S351R
c.1053C>A
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