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.Y456H

c.1366T>C

Surrounding Variants

1 paper

NM_015428.4

p.C464C

c.1392C>T

1 paper

NM_015428.4

p.V465I

c.1393G>A

2 papers

NM_015428.4

p.A439G

c.1316C>G

1 paper

NM_015428.4

p.R501C

c.1501C>T

1 paper

NM_015428.4

p.L502R

c.1505T>G

1 paper

NM_015428.4

p.H509N

c.1525C>A

1 paper

NM_015428.4

p.Q378*

c.1132C>T

1 paper

NM_015428.4

p.S535N

c.1604G>A

1 paper

NM_015428.4

p.I363M

c.1089C>G

1 paper

NM_015428.4

p.R331Q

c.992G>A

1 paper

NM_015428.4

p.G326D

c.977G>A

1 paper

NM_015428.4

p.Q311_K312del2

c.931_935del6