Varaico: Literature-Extracted Genetic Variants

UNKL

47 papers

RefSeq Summary

This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results i...

Pfam Domains

zf_CCCH_5aa 25–64UCSCUnkempt Zinc finger domain 1 (Znf1)

zf-CCCH_UNKaa 112–151UCSCUNK-like, CCCH zinc finger

zf-CCCH_UNK-like_4thaa 197–235UCSCRING finger protein unkempt homolog-like, CCCH zinc finger

Gene Aliases

HGNC Name

unk like zinc finger

HGNC Previous Symbol

C16orf28

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001372107.1

p.Q222_A225del0

c.666_674del9

Surrounding Variants

1 paper

NM_001372107.1

p.Q222_A225del4

c.664_674del12

1 paper

NM_001372107.1

p.N231S

c.692A>G

1 paper

NM_001372107.1

p.R233P

c.698G>C

1 paper

NM_001372107.1

p.R218L

c.653G>T

1 paper

NM_001372107.1

p.P216L

c.647C>T

2 papers

NM_001372107.1

p.R240W

c.718C>T

1 paper

NM_001372107.1

p.R240Q

c.719G>A

1 paper

NM_001372107.1

p.R197Q

c.590G>A

1 paper

NM_001372107.1

p.V252L

c.754G>T

1 paper

NM_001372107.1

p.V252L

c.754G>C

1 paper

NM_001372107.1

p.D265N

c.793G>A

1 paper

NM_001372107.1

p.P175_Q178del4

c.523_533del12