Varaico: Literature-Extracted Genetic Variants

ZC3H4

99 papers

RefSeq Summary

This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by ...

Pfam Domains

zf-CCCH_4aa 394–415UCSCCCCH-type zinc finger

zf-CCCHaa 420–445UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf-CCCH_9aa 446–483UCSCKIAA1064-like, CCCH zinc finger

Gene Aliases

HGNC Name

zinc finger CCCH-type containing 4

HGNC Alias Symbol

KIAA1064

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

4 papers

NM_015168.2

p.E779Q

c.2335G>C

2 papers

NM_015168.2

p.R111Q

c.332G>A

2 papers

NM_015168.2

p.R243W

c.727C>T

2 papers

NM_015168.2

p.A483A

c.1449C>T

2 papers

NM_015168.2

p.G719R

c.2155G>C

2 papers

NM_015168.2

p.G719R

c.2155G>A

2 papers

NM_015168.2

p.E722K

c.2164G>A

2 papers

NM_015168.2

p.Q1036*

c.3106C>T

1 paper

NM_015168.2

p.A4_P5delFs

c.10_14del5

1 paper

NM_015168.2

p.A3_P5delFs

c.9_15del7

1 paper

NM_015168.2

p.P10A

c.28C>G

1 paper

NM_015168.2

p.P10_E14del0

c.28_42del15