Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM1
Variant:p.Q673*

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.Q673*
c.2017C>T
Surrounding Variants
1 paper
NM_001172700.2
p.E675G
c.2024A>G
1 paper
NM_001172700.2
p.A678A
c.2034G>A
1 paper
NM_001172700.2
p.R682H
c.2045G>A
1 paper
NM_001172700.2
p.K660N
c.1980G>T
1 paper
NM_001172700.2
p.K660N
c.1980G>C
1 paper
NM_001172700.2
p.Q692L
c.2075A>T
1 paper
NM_001172700.2
p.R704W
c.2110C>T
1 paper
NM_001172700.2
p.G714D
c.2141G>A
1 paper
NM_001172700.2
p.R725C
c.2173C>T
1 paper
NM_001172700.2
p.V726L
c.2176G>T
1 paper
NM_001172700.2
p.V726L
c.2176G>C
1 paper
NM_001172700.2
p.R732Q
c.2195G>A
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