Varaico: Literature-Extracted Genetic Variants

Gene:PNISR
Variant:p.E718K

PNISR

63 papers

Pfam Domains

PNISRaa 223–391UCSCArginine/serine-rich protein PNISR

Gene Aliases

HGNC Name

PNN interacting serine and arginine rich protein

HGNC Previous Symbols

C6orf111; SFRS18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032870.4
p.E718K
c.2152G>A
Surrounding Variants
1 paper
NM_032870.4
p.S717G
c.2149A>G
1 paper
NM_032870.4
p.K714*
c.2140A>T
1 paper
NM_032870.4
p.D709Y
c.2125G>T
1 paper
NM_032870.4
p.D708Y
c.2122G>T
1 paper
NM_032870.4
p.I731V
c.2191A>G
1 paper
NM_032870.4
p.R686H
c.2057G>A
1 paper
NM_032870.4
p.K750R
c.2249A>G
1 paper
NM_032870.4
p.H751fs
c.2251_2252fs
1 paper
NM_032870.4
p.R671Q
c.2012G>A
1 paper
NM_032870.4
p.E664D
c.1992G>T
1 paper
NM_032870.4
p.E664D
c.1992G>C
1 paper
NM_032870.4
p.K657N
c.1971A>T
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