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

Selected Variant

1 paper

NM_021030.3

p.H245Q

c.735C>A

Surrounding Variants

1 paper

NM_021030.3

p.H245Q

c.735C>G

1 paper

NM_021030.3

p.E248Q

c.742G>C

2 papers

NM_021030.3

p.T274S

c.820A>T

1 paper

NM_021030.3

p.T274S

c.821C>G

1 paper

NM_021030.3

p.H273delFs

c.817_818delTG

1 paper

NM_021030.3

p.Y279Y

c.837C>T

2 papers

NM_021030.3

p.C309R

c.925T>C

1 paper

NM_021030.3

p.K176delFs

c.527delT

1 paper

NM_021030.3

p.F316L

c.948C>A

1 paper

NM_021030.3

p.V166G

c.497T>G

1 paper

NM_021030.3

p.R333*

c.997C>T

1 paper

NM_021030.3

p.Q139fs

c.415_416fs