Varaico: Literature-Extracted Genetic Variants

Gene:HIC2
Variant:p.R602C

HIC2

58 papers

Pfam Domains

BTBaa 36–142UCSCBTB/POZ domain
zf-C2H2aa 505–527UCSCZinc finger, C2H2 type
zf-C2H2aa 533–555UCSCZinc finger, C2H2 type
zf-C2H2aa 561–583UCSCZinc finger, C2H2 type
zf-C2H2aa 589–611UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

HIC ZBTB transcriptional repressor 2

HGNC Alias Symbols

KIAA1020; HRG22; ZBTB30; ZNF907

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015094.3
p.R602C
c.1804C>T
Surrounding Variants
1 paper
NM_015094.3
p.I605L
c.1813A>C
1 paper
NM_015094.3
p.R581C
c.1741C>T
1 paper
NM_015094.3
p.R575C
c.1723C>T
1 paper
NM_015094.3
p.R545fs
c.1633_1634fs
1 paper
NM_015094.3
p.R545C
c.1633C>T
1 paper
NM_015094.3
p.K540Q
c.1618A>C
1 paper
NM_015094.3
p.H527R
c.1580A>G
1 paper
NM_015094.3
p.P517S
c.1549C>T
1 paper
NM_015094.3
p.D516G
c.1547A>G
1 paper
NM_015094.3
p.P502S
c.1504C>T
1 paper
NM_015094.3
p.T499M
c.1496C>T
1 paper
NM_015094.3
p.E485K
c.1453G>A
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