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.K389delFs

c.1165_1166delTT

Surrounding Variants

1 paper

NM_021030.3

p.E392K

c.1174G>A

1 paper

NM_021030.3

p.R379*

c.1135C>T

1 paper

NM_021030.3

p.R355I

c.1064G>T

1 paper

NM_021030.3

p.S431delFs

c.1292delG

2 papers

NM_021030.3

p.E444*

c.1330G>T

1 paper

NM_021030.3

p.R333*

c.997C>T

1 paper

NM_021030.3

p.C449S

c.1346G>C

2 papers

NM_021030.3

p.S459S

c.1377A>G

1 paper

NM_021030.3

p.F316L

c.948C>A

2 papers

NM_021030.3

p.C309R

c.925T>C

1 paper

NM_021030.3

p.S488I

c.1463G>T

1 paper

NM_021030.3

p.Y279Y

c.837C>T