Varaico: Literature-Extracted Genetic Variants

Gene:KHDC4
Variant:p.T139P

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.T139P
c.415A>C
Surrounding Variants
1 paper
NM_014949.4
p.G155Splc
c.464+161C>T
1 paper
NM_014949.4
p.L120del1
c.358_360delCAG
1 paper
NM_014949.4
p.N110S
c.329A>G
1 paper
NM_014949.4
p.K99R
c.296A>G
1 paper
NM_014949.4
p.S95N
c.284G>A
1 paper
NM_014949.4
p.K85_L86Splc
c.256-1332T>G
1 paper
NM_014949.4
p.R177R
c.531G>A
1 paper
NM_014949.4
p.G286A
c.857G>C
1 paper
NM_014949.4
p.V62fs
c.184_185fs
1 paper
NM_014949.4
p.S40delFs
c.120delG
1 paper
NM_014949.4
p.G36R
c.106G>C
1 paper
NM_014949.4
p.G36R
c.106G>A
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