Varaico: Literature-Extracted Genetic Variants

Gene:PSD4
Variant:p.L595F

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.L595F
c.1783C>T
Surrounding Variants
2 papers
NM_012455.3
p.R594C
c.1780C>T
1 paper
NM_012455.3
p.R597C
c.1789C>T
1 paper
NM_012455.3
p.N585S
c.1754A>G
1 paper
NM_012455.3
p.V582I
c.1744G>A
1 paper
NM_012455.3
p.G581D
c.1742G>A
1 paper
NM_012455.3
p.E651K
c.1951G>A
1 paper
NM_012455.3
p.R657P
c.1970G>C
1 paper
NM_012455.3
p.F666I
c.1996T>A
1 paper
NM_012455.3
p.G718C
c.2152G>T
1 paper
NM_012455.3
p.R734H
c.2201G>A
1 paper
NM_012455.3
p.P750L
c.2249C>T
1 paper
NM_012455.3
p.T796M
c.2387C>T
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