Varaico: Literature-Extracted Genetic Variants

ZNF630

27 papers

RefSeq Summary

This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has...

Pfam Domains

KRABaa 7–48UCSCKRAB box

zf-C2H2aa 264–285UCSCZinc finger, C2H2 type

zf-C2H2aa 291–313UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 630

HGNC Alias Symbols

BC037316; dJ54B20.2; FLJ20573; MGC138344

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282201.2

p.L168V

c.502C>G

Surrounding Variants

1 paper

NM_001282201.2

p.L171F

c.513A>T

1 paper

NM_001282201.2

p.L171F

c.513A>C

1 paper

NM_001282201.2

p.D190Y

c.568G>T

1 paper

NM_001282201.2

p.I121F

c.361A>T

1 paper

NM_001282201.2

p.L116I

c.346T>A

1 paper

NM_001282201.2

p.I228T

c.683T>C

1 paper

NM_001282201.2

p.I91V

c.271A>G

1 paper

NM_001282201.2

p.Q90fs

c.268_269fs

1 paper

NM_001282201.2

p.Q257*

c.769C>T

1 paper

NM_001282201.2

p.A271G

c.812C>G

1 paper

NM_001282201.2

p.H337Y

c.1009C>T

1 paper

NM_001282201.2

p.G343R

c.1027G>C