Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.V302L

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.V302L
c.904G>C
Surrounding Variants
1 paper
NM_020717.5
p.V302L
c.904G>T
1 paper
NM_020717.5
p.R296H
c.887G>A
1 paper
NM_020717.5
p.E294*
c.880G>T
1 paper
NM_020717.5
p.E314K
c.940G>A
1 paper
NM_020717.5
p.P315L
c.944C>T
1 paper
NM_020717.5
p.R280Q
c.839G>A
1 paper
NM_020717.5
p.R280W
c.838C>T
1 paper
NM_020717.5
p.G330insFs
c.990dupG
1 paper
NM_020717.5
p.V334V
c.1002G>A
1 paper
NM_020717.5
p.P266P
c.798C>T
1 paper
NM_020717.5
p.Y262*
c.786C>G
1 paper
NM_020717.5
p.Y262*
c.786C>A
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