Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM1
Variant:p.R202Q

SHROOM1

52 papers

RefSeq Summary

SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008].

Pfam Domains

ASD1aa 116–250UCSCApx/Shroom domain ASD1
ASD2aa 544–824UCSCApx/Shroom domain ASD2

Gene Aliases

HGNC Name

shroom family member 1

HGNC Alias Symbols

APXL2; KIAA1960

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001172700.2
p.R202Q
c.605G>A
Surrounding Variants
1 paper
NM_001172700.2
p.G237R
c.709G>C
1 paper
NM_001172700.2
p.G237R
c.709G>A
1 paper
NM_001172700.2
p.P238S
c.712C>T
1 paper
NM_001172700.2
p.G254R
c.760G>C
1 paper
NM_001172700.2
p.G254R
c.760G>A
1 paper
NM_001172700.2
p.K267E
c.799A>G
1 paper
NM_001172700.2
p.E272K
c.814G>A
1 paper
NM_001172700.2
p.A119T
c.355G>A
1 paper
NM_001172700.2
p.S289T
c.865T>A
2 papers
NM_001172700.2
p.P104L
c.311C>T
1 paper
NM_001172700.2
p.T103S
c.308C>G
1 paper
NM_001172700.2
p.T103S
c.307A>T
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