Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.R1333*

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.R1333*
c.3997C>T
Surrounding Variants
1 paper
NM_020717.5
p.A1331S
c.3991G>T
1 paper
NM_020717.5
p.E1319K
c.3955G>A
1 paper
NM_020717.5
p.V1356I
c.4066G>A
3 papers
NM_020717.5
p.L1367F
c.4101G>T
3 papers
NM_020717.5
p.L1367F
c.4101G>C
1 paper
NM_020717.5
p.L1372M
c.4114C>A
1 paper
NM_020717.5
p.L1372L
c.4116G>T
1 paper
NM_020717.5
p.R1385*
c.4153C>T
1 paper
NM_020717.5
p.A1392D
c.4175C>A
1 paper
NM_020717.5
p.S1395R
c.4183A>C
1 paper
NM_020717.5
p.S1395R
c.4185C>G
1 paper
NM_020717.5
p.S1395R
c.4185C>A
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