Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.S1014R

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.S1014R
c.3042C>G
Surrounding Variants
1 paper
NM_020717.5
p.S1014R
c.3042C>A
1 paper
NM_020717.5
p.S1014R
c.3040A>C
1 paper
NM_020717.5
p.A1009A
c.3027A>G
1 paper
NM_020717.5
p.C1004*
c.3012C>A
1 paper
NM_020717.5
p.H1002R
c.3005A>G
1 paper
NM_020717.5
p.F1027Y
c.3080T>A
1 paper
NM_020717.5
p.M1049I
c.3147G>T
1 paper
NM_020717.5
p.M1049I
c.3147G>C
1 paper
NM_020717.5
p.M1049I
c.3147G>A
1 paper
NM_020717.5
p.R1056H
c.3167G>A
1 paper
NM_020717.5
p.E1060*
c.3178G>T
1 paper
NM_020717.5
p.A1072P
c.3214G>C
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