Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.S1089L

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
6 papers
NM_020717.5
p.S1089L
c.3266C>T
Surrounding Variants
1 paper
NM_020717.5
p.K1097del1
c.3289_3291delCTT
1 paper
NM_020717.5
p.L1080F
c.3238C>T
2 papers
NM_020717.5
p.E1079A
c.3236A>C
1 paper
NM_020717.5
p.R1103H
c.3308G>A
1 paper
NM_020717.5
p.Q1075R
c.3224A>G
1 paper
NM_020717.5
p.A1072P
c.3214G>C
1 paper
NM_020717.5
p.E1110D
c.3330G>T
1 paper
NM_020717.5
p.E1110D
c.3330G>C
1 paper
NM_020717.5
p.R1116H
c.3347G>A
1 paper
NM_020717.5
p.E1060*
c.3178G>T
2 papers
NM_020717.5
p.Q1120Q
c.3360G>A
4 papers
NM_020717.5
p.K1122Q
c.3364A>C
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