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.K323del1

c.967_969delAAG

Surrounding Variants

2 papers

NM_024165.3

p.R304K

c.911G>A

1 paper

NM_024165.3

p.R304insFs

c.910dupA

1 paper

NM_024165.3

p.S303fs

c.907_908fs

1 paper

NM_024165.3

p.S303delFs

c.909delC

1 paper

NM_024165.3

p.G366R

c.1096G>A

1 paper

NM_024165.3

p.G366R

c.1096G>C

1 paper

NM_024165.3

p.R379K

c.1136G>A

1 paper

NM_024165.3

p.R403delFs

c.1209delG

1 paper

NM_024165.3

p.R405W

c.1213C>T

1 paper

NM_024165.3

p.L412L

c.1234C>T

1 paper

NM_024165.3

p.Q413H

c.1239G>T

1 paper

NM_024165.3

p.R275P

c.824G>C