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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDGFL2

Variant:p.C64S

HDGFL2

74 papers

RefSeq Summary

This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of...

Pfam Domains

PWWPaa 8–89UCSCPWWP domain

LEDGFaa 472–574UCSCLens epithelium-derived growth factor (LEDGF)

Gene Aliases

HGNC Name

HDGF like 2

HGNC Alias Symbols

HRP2; Hdgfrp2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr19:4475486 G>C

NM_001001520.3

p.C64S

c.191G>C

PWWP

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

2 papers

chr19:4475485 T>A

NM_001001520.3

p.C64S

c.190T>A

PWWP

exact variant not in gnomAD8 overlapping SVs

1 paper

chr19:4475476 T>A

NM_001001520.3

p.Y61N

c.181T>A

PWWP

exact variant not in gnomAD8 overlapping SVs

7 papers

chr19:4475551 A>T

NM_001001520.3

p.N86Y

c.256A>T

PWWP

exact variant not in gnomAD8 overlapping SVs

1 paper

chr19:4475295 C>T

NM_001001520.3

p.G31G

c.93C>T

PWWP

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr19:4472403 A>C

NM_001001520.3

p.Y18S

c.53A>C

PWWP

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:4472388 C>A

NM_001001520.3

p.A13D

c.38C>A

PWWP

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

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