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.G240S

c.718G>A

Surrounding Variants

1 paper

NM_024165.3

p.G239fs

c.715_716fs

1 paper

NM_024165.3

p.G239delFs

c.715delG

1 paper

NM_024165.3

p.E242*

c.724G>T

1 paper

NM_024165.3

p.R245W

c.733C>T

1 paper

NM_024165.3

p.L249I

c.745C>A

1 paper

NM_024165.3

p.L249V

c.745C>G

1 paper

NM_024165.3

p.F273delFs

c.818_819delTT

1 paper

NM_024165.3

p.D274N

c.820G>A

1 paper

NM_024165.3

p.R275S

c.823C>A

1 paper

NM_024165.3

p.R275P

c.824G>C

1 paper

NM_024165.3

p.R205W

c.613C>T

1 paper

NM_024165.3

p.S303fs

c.907_908fs