Varaico: Literature-Extracted Genetic Variants

Gene:PSD4
Variant:p.C316R

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
1 paper
NM_012455.3
p.C316R
c.946T>C
Surrounding Variants
1 paper
NM_012455.3
p.F320L
c.958T>C
1 paper
NM_012455.3
p.F320L
c.960C>A
1 paper
NM_012455.3
p.F320L
c.960C>G
1 paper
NM_012455.3
p.T295A
c.883A>G
1 paper
NM_012455.3
p.E288G
c.863A>G
1 paper
NM_012455.3
p.G349R
c.1045G>A
1 paper
NM_012455.3
p.G349R
c.1045G>C
3 papers
NM_012455.3
p.G269A
c.806G>C
2 papers
NM_012455.3
p.S267F
c.800C>T
1 paper
NM_012455.3
p.A253E
c.758C>A
1 paper
NM_012455.3
p.M244V
c.730A>G
1 paper
NM_012455.3
p.E242K
c.724G>A
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