Varaico: Literature-Extracted Genetic Variants

Gene:SUSD2
Variant:p.E195*

SUSD2

75 papers

Pfam Domains

AMOPaa 289–429UCSCAMOP domain
VWDaa 447–613UCSCvon Willebrand factor type D domain
C8-3_MUC4aa 669–718UCSCMucin-4-like C8-3 domain
Sushiaa 725–778UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

sushi domain containing 2

HGNC Alias Symbols

BK65A6.2; FLJ22778; W5C5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019601.4
p.E195*
c.583G>T
Surrounding Variants
1 paper
NM_019601.4
p.E195K
c.583G>A
1 paper
NM_019601.4
p.T191A
c.571A>G
1 paper
NM_019601.4
p.A172V
c.515C>T
1 paper
NM_019601.4
p.P149H
c.446C>A
1 paper
NM_019601.4
p.W210R
c.628T>A
1 paper
NM_019601.4
p.Y218fs
c.652_653fs
1 paper
NM_019601.4
p.T222A
c.664A>G
1 paper
NM_019601.4
p.T233I
c.698C>T
1 paper
NM_019601.4
p.H106Q
c.318T>A
1 paper
NM_019601.4
p.T103A
c.307A>G
1 paper
NM_019601.4
p.D262V
c.785A>T
1 paper
NM_019601.4
p.W275*
c.824G>A
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