Varaico: Literature-Extracted Genetic Variants

ZNF14

48 papers

RefSeq Summary

The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger pro...

Pfam Domains

KRABaa 3–44UCSCKRAB box

zf-C2H2aa 103–125UCSCZinc finger, C2H2 type

zf-C2H2aa 169–191UCSCZinc finger, C2H2 type

zf-C2H2aa 197–218UCSCZinc finger, C2H2 type

zf-C2H2_6aa 223–248UCSCC2H2-type zinc finger

zf-C2H2aa 251–273UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 14

HGNC Alias Symbols

KOX6; GIOT-4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

2 papers

NM_021030.3

p.T274S

c.820A>T

2 papers

NM_021030.3

p.C309R

c.925T>C

2 papers

NM_021030.3

p.E444*

c.1330G>T

2 papers

NM_021030.3

p.S459S

c.1377A>G

1 paper

NM_021030.3

p.M1V

c.1A>G

1 paper

NM_021030.3

p.M1_D2Splc

c.4-3C>T

1 paper

NM_021030.3

p.A10T

c.28G>A

1 paper

NM_021030.3

p.A10V

c.29C>T

1 paper

NM_021030.3

p.T14N

c.41C>A

1 paper

NM_021030.3

p.E17K

c.49G>A

1 paper

NM_021030.3

p.R76I

c.227G>T

1 paper

NM_021030.3

p.P102L

c.305C>T