Varaico: Literature-Extracted Genetic Variants

ZNF398

175 papers

RefSeq Summary

This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding disti...

Pfam Domains

KRABaa 142–183UCSCKRAB box

zf-C2HC_2aa 398–419UCSCzinc-finger of a C2HC-type

zf-C2H2aa 427–449UCSCZinc finger, C2H2 type

zf-C2H2aa 455–477UCSCZinc finger, C2H2 type

zf-C2H2aa 483–505UCSCZinc finger, C2H2 type

zf-C2H2aa 511–533UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 398

HGNC Alias Symbols

ZER6; KIAA1339; P51; P71

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170686.3

p.S484F

c.1451C>T

Surrounding Variants

1 paper

NM_170686.3

p.E480*

c.1438G>T

2 papers

NM_170686.3

p.R475R

c.1425G>A

1 paper

NM_170686.3

p.Q474*

c.1420C>T

1 paper

NM_170686.3

p.S463T

c.1388G>C

1 paper

NM_170686.3

p.C460R

c.1378T>C

1 paper

NM_170686.3

p.P512A

c.1534C>G

1 paper

NM_170686.3

p.F455_R456insC

c.1363_1367ins3

1 paper

NM_170686.3

p.R447_A448ins4

c.1341_1342ins12

1 paper

NM_170686.3

p.E524D

c.1572G>C

1 paper

NM_170686.3

p.R537W

c.1609C>T

1 paper

NM_170686.3

p.F427L

c.1281C>A

1 paper

NM_170686.3

p.F427_D438Fs

c.1281_1312delinsATATGTFs