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

1–12 of 50 variants

2 papers

NM_015428.4

p.S143G

c.427A>G

2 papers

NM_015428.4

p.A439G

c.1316C>G

1 paper

NM_015428.4

p.G24R

c.70G>A

1 paper

NM_015428.4

p.G24R

c.70G>C

1 paper

NM_015428.4

p.A35V

c.104C>T

1 paper

NM_015428.4

p.D41E

c.123C>A

1 paper

NM_015428.4

p.D41E

c.123C>G

1 paper

NM_015428.4

p.P56P

c.168A>G

1 paper

NM_015428.4

p.S59G

c.175A>G

1 paper

NM_015428.4

p.L62V

c.184C>G

1 paper

NM_015428.4

p.N82S

c.245A>G

1 paper

NM_015428.4

p.L102L

c.304T>C