Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.K1122Q

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
4 papers
NM_020717.5
p.K1122Q
c.3364A>C
Surrounding Variants
2 papers
NM_020717.5
p.Q1120Q
c.3360G>A
1 paper
NM_020717.5
p.R1116H
c.3347G>A
3 papers
NM_020717.5
p.K1122ins4
c.3365_3366ins12
2 papers
NM_020717.5
p.Q1128ins4
c.3383_3384ins12
2 papers
NM_020717.5
p.Q1128Q
c.3384G>A
5 papers
NM_020717.5
p.K1129Q
c.3385A>C
1 paper
NM_020717.5
p.Q1130Q
c.3390A>G
1 paper
NM_020717.5
p.E1132Q
c.3394G>C
1 paper
NM_020717.5
p.E1133K
c.3397G>A
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.E1137E
c.3411G>A
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