Varaico: Literature-Extracted Genetic Variants

Gene:PSD4
Variant:p.E175K

PSD4

99 papers

Pfam Domains

Sec7aa 576–738UCSCSec7 domain
PH_9aa 778–892UCSCPleckstrin homology domain

Gene Aliases

HGNC Name

pleckstrin and Sec7 domain containing 4

HGNC Alias Symbols

TIC; EFA6B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012455.3
p.E175K
c.523G>A
Surrounding Variants
1 paper
NM_012455.3
p.T190M
c.569C>T
1 paper
NM_012455.3
p.F156F
c.468C>T
1 paper
NM_012455.3
p.G197R
c.589G>A
1 paper
NM_012455.3
p.G197R
c.589G>C
1 paper
NM_012455.3
p.S151T
c.451T>A
1 paper
NM_012455.3
p.T150M
c.449C>T
1 paper
NM_012455.3
p.G200D
c.599G>A
1 paper
NM_012455.3
p.N208S
c.623A>G
1 paper
NM_012455.3
p.G220V
c.659G>T
1 paper
NM_012455.3
p.Q127E
c.379C>G
1 paper
NM_012455.3
p.E228G
c.683A>G
1 paper
NM_012455.3
p.A121fs
c.361_362fs
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