Varaico: Literature-Extracted Genetic Variants

ZBTB16

184 papers

RefSeq Summary

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. ...

Pfam Domains

BTBaa 24–126UCSCBTB/POZ domain

zf-C2H2_6aa 460–485UCSCC2H2-type zinc finger

zf-C2H2_6aa 517–542UCSCC2H2-type zinc finger

zf-C2H2aa 546–568UCSCZinc finger, C2H2 type

zf-C2H2aa 574–596UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 16

HGNC Previous Symbol

ZNF145

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006006.6

p.P227R

c.680C>G

Surrounding Variants

1 paper

NM_006006.6

p.P227L

c.680C>T

1 paper

NM_006006.6

p.E226Q

c.676G>C

1 paper

NM_006006.6

p.G231A

c.692G>C

1 paper

NM_006006.6

p.R234W

c.700C>T

1 paper

NM_006006.6

p.P236R

c.707C>G

1 paper

NM_006006.6

p.G216fs

c.646_647fs

1 paper

NM_006006.6

p.G216_L218delFs

c.646_652del7

1 paper

NM_006006.6

p.E240D

c.720G>C

1 paper

NM_006006.6

p.E240D

c.720G>T

2 papers

NM_006006.6

p.K242R

c.725A>G

1 paper

NM_006006.6

p.T243R

c.728C>G

1 paper

NM_006006.6

p.M245I

c.735G>A