Varaico: Literature-Extracted Genetic Variants

Gene:PALD1
Variant:p.S294R

PALD1

97 papers

Pfam Domains

PTPlike_phytaseaa 161–330UCSCInositol hexakisphosphate
PTPlike_phytaseaa 545–679UCSCInositol hexakisphosphate

Gene Aliases

HGNC Name

phosphatase domain containing paladin 1

HGNC Previous Symbol

KIAA1274

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014431.3
p.S294R
c.880A>C
Surrounding Variants
1 paper
NM_014431.3
p.S294R
c.882C>A
1 paper
NM_014431.3
p.S294R
c.882C>G
1 paper
NM_014431.3
p.C312F
c.935G>T
1 paper
NM_014431.3
p.G322D
c.965G>A
1 paper
NM_014431.3
p.M323T
c.968T>C
1 paper
NM_014431.3
p.R333C
c.997C>T
1 paper
NM_014431.3
p.R333H
c.998G>A
2 papers
NM_014431.3
p.A342V
c.1025C>T
1 paper
NM_014431.3
p.P351P
c.1053T>G
1 paper
NM_014431.3
p.T380A
c.1138A>G
1 paper
NM_014431.3
p.E394K
c.1180G>A
1 paper
NM_014431.3
p.Q396_K397del2
c.1186_1190del6
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