Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.R570*

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.R570*
c.1708C>T
Surrounding Variants
1 paper
NM_020717.5
p.S564R
c.1692C>G
1 paper
NM_020717.5
p.S564R
c.1692C>A
1 paper
NM_020717.5
p.S564R
c.1690A>C
1 paper
NM_020717.5
p.E559K
c.1675G>A
1 paper
NM_020717.5
p.A547S
c.1639G>T
1 paper
NM_020717.5
p.T543S
c.1628C>G
1 paper
NM_020717.5
p.T543S
c.1627A>T
1 paper
NM_020717.5
p.Q597H
c.1791G>T
1 paper
NM_020717.5
p.Q597H
c.1791G>C
1 paper
NM_020717.5
p.L610F
c.1830G>T
1 paper
NM_020717.5
p.L610F
c.1830G>C
1 paper
NM_020717.5
p.R514*
c.1540A>T
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