Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM1
Variant:p.P75T

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.P75T
c.223C>A
Surrounding Variants
1 paper
NM_001172700.2
p.A78V
c.233C>T
1 paper
NM_001172700.2
p.R64P
c.191G>C
1 paper
NM_001172700.2
p.P101L
c.302C>T
1 paper
NM_001172700.2
p.T103S
c.307A>T
1 paper
NM_001172700.2
p.T103S
c.308C>G
2 papers
NM_001172700.2
p.P104L
c.311C>T
3 papers
NM_001172700.2
p.P45Q
c.134C>A
1 paper
NM_001172700.2
p.A119T
c.355G>A
1 paper
NM_001172700.2
p.D30fs
c.88_89fs
1 paper
NM_001172700.2
p.P13S
c.37C>T
1 paper
NM_001172700.2
p.R202Q
c.605G>A
1 paper
NM_001172700.2
p.G237R
c.709G>C
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