Varaico: Literature-Extracted Genetic Variants

Gene:UNKL
Variant:p.H123Q

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_5aa 25–64UCSCUnkempt Zinc finger domain 1 (Znf1)
zf-CCCH_UNKaa 112–151UCSCUNK-like, CCCH zinc finger
zf-CCCH_UNKaa 112–151UCSCUNK-like, CCCH zinc finger
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.H123Q
c.369C>A
Surrounding Variants
1 paper
NM_001372107.1
p.H123Q
c.369C>G
1 paper
NM_001372107.1
p.A127T
c.379G>A
1 paper
NM_001372107.1
p.G129_H130delFs
c.386_389del4
1 paper
NM_001372107.1
p.V132M
c.394G>A
1 paper
NM_001372107.1
p.K110M
c.329A>T
1 paper
NM_001372107.1
p.D106N
c.316G>A
1 paper
NM_001372107.1
p.T104T
c.312G>T
1 paper
NM_001372107.1
p.R102L
c.305G>T
1 paper
NM_001372107.1
p.P175_Q178del0
c.525_533del9
1 paper
NM_001372107.1
p.P175_Q178del4
c.523_533del12
1 paper
NM_001372107.1
p.R197Q
c.590G>A
1 paper
NM_001372107.1
p.P216L
c.647C>T
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