Varaico: Literature-Extracted Genetic Variants

ZNF473

34 papers

RefSeq Summary

This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and ma...

Pfam Domains

KRABaa 5–46UCSCKRAB box

zf-C2H2aa 209–231UCSCZinc finger, C2H2 type

zf-C2H2aa 320–342UCSCZinc finger, C2H2 type

zf-C2H2aa 347–369UCSCZinc finger, C2H2 type

zf-C2H2aa 375–397UCSCZinc finger, C2H2 type

zf-C2H2aa 431–453UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 473

HGNC Alias Symbols

KIAA1141; DKFZP434N043; HZFP100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015428.4

p.F274F

c.822T>C

Surrounding Variants

1 paper

NM_015428.4

p.T260K

c.779C>A

1 paper

NM_015428.4

p.T260M

c.779C>T

1 paper

NM_015428.4

p.P256L

c.767C>T

1 paper

NM_015428.4

p.Q306R

c.917A>G

1 paper

NM_015428.4

p.E309G

c.926A>G

1 paper

NM_015428.4

p.Q311_K312del2

c.931_935del6

1 paper

NM_015428.4

p.R223C

c.667C>T

1 paper

NM_015428.4

p.G326D

c.977G>A

1 paper

NM_015428.4

p.R331Q

c.992G>A

1 paper

NM_015428.4

p.I363M

c.1089C>G

1 paper

NM_015428.4

p.Q378*

c.1132C>T

1 paper

NM_015428.4

p.T164M

c.491C>T