Varaico: Literature-Extracted Genetic Variants

Gene:SUSD1

SUSD1

47 papers

Pfam Domains

EGF_CAaa 73–115UCSCCalcium-binding EGF domain
EGF_CAaa 125–174UCSCCalcium-binding EGF domain
Sushiaa 179–234UCSCSushi repeat (SCR repeat)
Sushiaa 239–294UCSCSushi repeat (SCR repeat)
Fn3_PTPRUaa 601–717UCSCReceptor-type tyrosine-protein phosphatase U Fn3 domain

Gene Aliases

HGNC Name

sushi domain containing 1

HGNC Alias Symbol

DKFZP761E1824

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
3 papers
NM_022486.5
p.E590K
c.1768G>A
2 papers
NM_022486.5
p.G285D
c.854G>A
2 papers
NM_022486.5
p.R343delFs
c.1028delC
2 papers
NM_022486.5
p.V370M
c.1108G>A
1 paper
NM_022486.5
p.D7V
c.20A>T
1 paper
NM_022486.5
p.R12L
c.35G>T
1 paper
NM_022486.5
p.R13C
c.37C>T
1 paper
NM_022486.5
p.G67W
c.199G>T
1 paper
NM_022486.5
p.N112S
c.335A>G
1 paper
NM_022486.5
p.I191T
c.572T>C
1 paper
NM_022486.5
p.I237T
c.710T>C
1 paper
NM_022486.5
p.R246Q
c.737G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."