Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM1
Variant:p.P480L

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
2 papers
NM_001172700.2
p.P480L
c.1439C>T
Surrounding Variants
1 paper
NM_001172700.2
p.I479T
c.1436T>C
1 paper
NM_001172700.2
p.N476K
c.1428T>G
1 paper
NM_001172700.2
p.T488N
c.1463C>A
1 paper
NM_001172700.2
p.G462R
c.1384G>C
1 paper
NM_001172700.2
p.A507S
c.1519G>T
1 paper
NM_001172700.2
p.A507G
c.1520C>G
1 paper
NM_001172700.2
p.S511fs
c.1531_1532fs
1 paper
NM_001172700.2
p.S511delFs
c.1531_1532delGA
1 paper
NM_001172700.2
p.G512insFs
c.1535dupG
1 paper
NM_001172700.2
p.G512fs
c.1534_1535fs
1 paper
NM_001172700.2
p.P440R
c.1319C>G
1 paper
NM_001172700.2
p.L560P
c.1679T>C
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