Varaico: Literature-Extracted Genetic Variants

ZNF254

33 papers

RefSeq Summary

Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned ...

Pfam Domains

KRABaa 12–53UCSCKRAB box

zf-C2H2aa 169–190UCSCZinc finger, C2H2 type

zf-C2H2aa 225–247UCSCZinc finger, C2H2 type

zf-C2H2aa 253–275UCSCZinc finger, C2H2 type

zf-H2C2_2aa 295–320UCSCZinc-finger double domain

zf-C2H2aa 337–359UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 254

HGNC Previous Symbols

ZNF91L; ZNF539

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203282.4

p.R622delFs

c.1865_1866delGA

Surrounding Variants

1 paper

NM_203282.4

p.W632S

c.1895G>C

1 paper

NM_203282.4

p.F635C

c.1904T>G

1 paper

NM_203282.4

p.S582A

c.1744T>G

2 papers

NM_203282.4

p.K550E

c.1648A>G

1 paper

NM_203282.4

p.E542G

c.1625A>G

1 paper

NM_203282.4

p.E494K

c.1480G>A

1 paper

NM_203282.4

p.E494Q

c.1480G>C

1 paper

NM_203282.4

p.C492R

c.1474T>C

1 paper

NM_203282.4

p.R458G

c.1372A>G

1 paper

NM_203282.4

p.K453E

c.1357A>G

1 paper

NM_203282.4

p.K435K

c.1305G>A

2 papers

NM_203282.4

p.T373A

c.1117A>G