Varaico: Literature-Extracted Genetic Variants

Gene:PHLDA1
Variant:p.K246R

PHLDA1

71 papers

RefSeq Summary

This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [pro...

Gene Aliases

HGNC Name

pleckstrin homology like domain family A member 1

HGNC Alias Symbols

TDAG51; DT1P1B11; PHRIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007350.3
p.K246R
c.737A>G
Surrounding Variants
2 papers
NM_007350.3
p.G247C
c.739G>T
1 paper
NM_007350.3
p.G247S
c.739G>A
1 paper
NM_007350.3
p.Y249C
c.746A>G
1 paper
NM_007350.3
p.Y249fs
c.745_746fs
1 paper
NM_007350.3
p.Y251fs
c.751_752fs
1 paper
NM_007350.3
p.D241N
c.721G>A
1 paper
NM_007350.3
p.F252fs
c.754_755fs
1 paper
NM_007350.3
p.V240M
c.718G>A
1 paper
NM_007350.3
p.E258*
c.772G>T
1 paper
NM_007350.3
p.E258Q
c.772G>C
2 papers
NM_007350.3
p.F234L
c.702C>G
2 papers
NM_007350.3
p.F234L
c.702C>A
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