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

1–12 of 26 variants

2 papers

NM_001282201.2

p.S71N

c.212G>A

2 papers

NM_001282201.2

p.P626S

c.1876C>T

1 paper

NM_001282201.2

p.E20*

c.58G>T

1 paper

NM_001282201.2

p.N26I

c.77A>T

1 paper

NM_001282201.2

p.K30N

c.90G>T

1 paper

NM_001282201.2

p.K30N

c.90G>C

1 paper

NM_001282201.2

p.E39Q

c.115G>C

1 paper

NM_001282201.2

p.Q90fs

c.268_269fs

1 paper

NM_001282201.2

p.I91V

c.271A>G

1 paper

NM_001282201.2

p.L116I

c.346T>A

1 paper

NM_001282201.2

p.I121F

c.361A>T

1 paper

NM_001282201.2

p.L168V

c.502C>G