Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.R146W

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
4 papers
NM_020717.5
p.R146W
c.436C>T
Surrounding Variants
1 paper
NM_020717.5
p.R146L
c.437G>T
2 papers
NM_020717.5
p.H147Y
c.439C>T
1 paper
NM_020717.5
p.L162P
c.485T>C
1 paper
NM_020717.5
p.P165Q
c.494C>A
1 paper
NM_020717.5
p.Y170C
c.509A>G
1 paper
NM_020717.5
p.Q179P
c.536A>C
1 paper
NM_020717.5
p.Y190F
c.569A>T
1 paper
NM_020717.5
p.S197L
c.590C>T
1 paper
NM_020717.5
p.R207_P208Fs
c.621_624delinsGAAFs
1 paper
NM_020717.5
p.T214insFs
c.641_642insC
1 paper
NM_020717.5
p.K225E
c.673A>G
2 papers
NM_020717.5
p.R230Q
c.689G>A
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