Varaico: Literature-Extracted Genetic Variants

PHF1

88 papers

RefSeq Summary

This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic gen...

Pfam Domains

Tudor_2aa 34–69UCSCJumonji domain-containing protein 2A Tudor domain

PHDaa 90–139UCSCPHD-finger

Mtf2_Caa 530–565UCSCPolycomb-like MTF2 factor 2

Gene Aliases

HGNC Name

PHD finger protein 1

HGNC Alias Symbols

MTF2L2; TDRD19C; PCL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024165.3

p.G34V

c.101G>T

Surrounding Variants

1 paper

NM_024165.3

p.T24A

c.70A>G

1 paper

NM_024165.3

p.L46I

c.136C>A

1 paper

NM_024165.3

p.K53fs

c.157_158fs

1 paper

NM_024165.3

p.V54L

c.160G>C

1 paper

NM_024165.3

p.V54L

c.160G>T

1 paper

NM_024165.3

p.E66K

c.196G>A

1 paper

NM_024165.3

p.D67A

c.200A>C

1 paper

NM_024165.3

p.D117G

c.350A>G

1 paper

NM_024165.3

p.C118Y

c.353G>A

1 paper

NM_024165.3

p.A123V

c.368C>T

1 paper

NM_024165.3

p.E128Q

c.382G>C

1 paper

NM_024165.3

p.I143T

c.428T>C