Varaico: Literature-Extracted Genetic Variants

Gene:KHDC4
Variant:p.P447A

KHDC4

37 papers

Pfam Domains

KH_12aa 103–188UCSCKH-domain
KH-I_KHDC4-BBPaa 242–317UCSCKHDC4/BBP-like, KH-domain type I

Gene Aliases

HGNC Name

KH domain containing 4, pre-mRNA splicing factor

HGNC Previous Symbol

KIAA0907

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014949.4
p.P447A
c.1339C>G
Surrounding Variants
2 papers
NM_014949.4
p.Q446P
c.1337A>C
1 paper
NM_014949.4
p.Q448P
c.1343A>C
2 papers
NM_014949.4
p.Q444P
c.1331A>C
1 paper
NM_014949.4
p.K461N
c.1383G>T
1 paper
NM_014949.4
p.K461N
c.1383G>C
1 paper
NM_014949.4
p.P469L
c.1406C>T
1 paper
NM_014949.4
p.A502T
c.1504G>A
1 paper
NM_014949.4
p.S504L
c.1511C>T
1 paper
NM_014949.4
p.R516fs
c.1546_1547fs
1 paper
NM_014949.4
p.R516insFs
c.1546_1547dupAG
2 papers
NM_014949.4
p.R516fs
c.1546_1547fs
1 paper
NM_014949.4
p.D517fs
c.1549_1550fs
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