Varaico: Literature-Extracted Genetic Variants

Gene:GREB1L
Variant:p.C559S

GREB1L

159 papers

Pfam Domains

GREB1_Naa 85–237UCSCGREB1 N-terminal domain
GREB1_2ndaa 317–613UCSCGREB1, second domain
cpSF2-GREB1aa 668–1352UCSCCircularly permuted SF2 helicase found in GREB1 proteins
TAGTaa 1517–1747UCSCTET-Associated Glycosyltransferase
GREB1_Caa 1761–1923UCSCGREB1 C-terminal region

Gene Aliases

HGNC Name

GREB1 like retinoic acid receptor coactivator

HGNC Previous Symbol

KIAA1772

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001142966.3
p.C559S
c.1676G>C
Surrounding Variants
1 paper
NM_001142966.3
p.C559G
c.1675T>G
1 paper
NM_001142966.3
p.V570M
c.1708G>A
7 papers
NM_001142966.3
p.Q528fs
c.1582_1583fs
7 papers
NM_001142966.3
p.Q528delFs
c.1582delC
1 paper
NM_001142966.3
p.D520N
c.1558G>A
1 paper
NM_001142966.3
p.L507_P508del1
c.1521_1523delCCC
1 paper
NM_001142966.3
p.Q498*
c.1492C>T
5 papers
NM_001142966.3
p.A497G
c.1490C>G
1 paper
NM_001142966.3
p.R579*
c.1735C>T
7 papers
NM_001142966.3
p.E594*
c.1780G>T
1 paper
NM_001142966.3
p.I600delFs
c.1799delT
7 papers
NM_001142966.3
p.S605R
c.1813A>C
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