Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.W21*

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.W21*
c.63G>A
Surrounding Variants
1 paper
NM_020717.5
p.W21*
c.62G>A
1 paper
NM_020717.5
p.A19G
c.56C>G
1 paper
NM_020717.5
p.H31Y
c.91C>T
1 paper
NM_020717.5
p.Y10*
c.30C>G
1 paper
NM_020717.5
p.Y10*
c.30C>A
1 paper
NM_020717.5
p.P34R
c.101C>G
1 paper
NM_020717.5
p.F8F
c.24C>T
1 paper
NM_020717.5
p.P5_F8ins1
c.15_23dup9
1 paper
NM_020717.5
p.F8Y
c.23T>A
1 paper
NM_020717.5
p.T36fs
c.106_107fs
1 paper
NM_020717.5
p.T36delFs
c.107_108delTG
2 papers
NM_020717.5
p.P5T
c.13C>A
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