Varaico: Literature-Extracted Genetic Variants

ZNF462

182 papers

RefSeq Summary

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicin...

Pfam Domains

zf-C2H2_ZNF462aa 1–31UCSCZinc finger protein 462, C2H2 zinc finger

zf-C2H2_ZNF462_1staa 106–134UCSCZinc finger protein 462, first C2H2 zinc finger

zf-C2H2_2nd_ZNF462aa 160–189UCSCZinc finger protein 462, second C2H2 zinc finger

zf-C2H2_7th_ZNF462aa 839–880UCSCZinc finger protein 462, seventh C2H2 zinc finger

zf-C2H2_7th_ZNF462aa 921–962UCSCZinc finger protein 462, seventh C2H2 zinc finger

zf-C2H2_7th_ZNF462aa 1026–1067UCSCZinc finger protein 462, seventh C2H2 zinc finger

Gene Aliases

HGNC Name

zinc finger protein 462

HGNC Alias Symbols

DKFZP762N2316; KIAA1803; Zfp462

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021224.6

p.K2232Splc

c.6696-2A>C

Surrounding Variants

1 paper

NM_021224.6

p.K2232_A2241delFs

c.6696_6721del26

1 paper

NM_021224.6

p.S2233fs

c.6697_6698fs

1 paper

NM_001347997.2

p.L1389F

c.4165C>T

1 paper

NM_021224.6

p.L2258H

c.6773T>A

1 paper

NM_001347997.2

p.L1395delFs

c.4185delC

7 papers

NM_021224.6

p.Y2265insFs

c.6794dupA

7 papers

NM_021224.6

p.Y2265*

c.6795C>A

7 papers

NM_021224.6

p.Y2265*

c.6795C>G

2 papers

NM_021224.6

p.R2277*

c.6829C>T

1 paper

NM_021224.6

p.R2277Q

c.6830G>A

1 paper

NM_021224.6

p.K2232fs

c.6694_6695fs

1 paper

NM_021224.6

p.D2224insFs

c.6671_6672insG