Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.S256del1

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.S256del1
c.766_768delGGA
Surrounding Variants
1 paper
NM_020717.5
p.R257H
c.770G>A
1 paper
NM_020717.5
p.P258S
c.772C>T
1 paper
NM_020717.5
p.S251R
c.753C>G
1 paper
NM_020717.5
p.S251R
c.753C>A
1 paper
NM_020717.5
p.Y262*
c.786C>G
1 paper
NM_020717.5
p.Y262*
c.786C>A
1 paper
NM_020717.5
p.S251R
c.751A>C
1 paper
NM_020717.5
p.P266P
c.798C>T
1 paper
NM_020717.5
p.G245A
c.734G>C
1 paper
NM_020717.5
p.N244S
c.731A>G
1 paper
NM_020717.5
p.R241Q
c.722G>A
1 paper
NM_020717.5
p.R280W
c.838C>T
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