Varaico: Literature-Extracted Genetic Variants

Gene:HDGFL2
Variant:p.R545R

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001520.3
p.R545R
c.1635G>T
Surrounding Variants
1 paper
NM_001001520.3
p.R545R
c.1635G>C
1 paper
NM_001001520.3
p.E541D
c.1623A>T
3 papers
NM_001001520.3
p.P553L
c.1658C>T
1 paper
NM_001001520.3
p.A557T
c.1669G>A
1 paper
NM_001001520.3
p.A531G
c.1592C>G
1 paper
NM_001001520.3
p.N562S
c.1685A>G
1 paper
NM_001001520.3
p.K574fs
c.1720_1721fs
3 papers
NM_001001520.3
p.K574delFs
c.1721_1722delAG
1 paper
NM_001001520.3
p.K574_E579del0
c.1721_1735del15
2 papers
NM_001001520.3
p.K574delFs
c.1722delG
1 paper
NM_001001520.3
p.L575del1
c.1723_1724delCTG
1 paper
NM_001001520.3
p.G577E
c.1730G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."