Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.E1204G

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
3 papers
NM_020717.5
p.E1204G
c.3611A>G
Surrounding Variants
2 papers
NM_020717.5
p.S1194L
c.3581C>T
1 paper
NM_020717.5
p.S1245L
c.3734C>T
1 paper
NM_020717.5
p.E1156_E1157del2
c.3466_3470del6
1 paper
NM_020717.5
p.T1250I
c.3749C>T
1 paper
NM_020717.5
p.E1156_E1157del1
c.3468_3470delTCT
1 paper
NM_020717.5
p.E1156D
c.3468A>T
1 paper
NM_020717.5
p.E1156E
c.3468A>G
1 paper
NM_020717.5
p.E1156D
c.3468A>C
1 paper
NM_020717.5
p.A1253S
c.3757G>T
1 paper
NM_020717.5
p.E1147E
c.3441G>A
1 paper
NM_020717.5
p.E1141fs
c.3421_3422fs
1 paper
NM_020717.5
p.E1137E
c.3411G>A
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