Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM1
Variant:p.D823E

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.D823E
c.2469C>A
Surrounding Variants
1 paper
NM_001172700.2
p.D823E
c.2469C>G
1 paper
NM_001172700.2
p.P845S
c.2533C>T
1 paper
NM_001172700.2
p.A801S
c.2401G>T
1 paper
NM_001172700.2
p.R779*
c.2335C>T
1 paper
NM_001172700.2
p.A772V
c.2315C>T
1 paper
NM_001172700.2
p.A767V
c.2300C>T
1 paper
NM_001172700.2
p.K763Q
c.2287A>C
1 paper
NM_001172700.2
p.Q742K
c.2224C>A
1 paper
NM_001172700.2
p.D738H
c.2212G>C
1 paper
NM_001172700.2
p.R732Q
c.2195G>A
1 paper
NM_001172700.2
p.V726L
c.2176G>T
1 paper
NM_001172700.2
p.V726L
c.2176G>C
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