Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS2

KHDRBS2

60 papers

Pfam Domains

Qua1aa 5–57UCSCQua1 domain
KH-I_KHDC4-BBPaa 70–157UCSCKHDC4/BBP-like, KH-domain type I
Sam68-YYaa 267–321UCSCTyrosine-rich domain of Sam68

Gene Aliases

HGNC Name

KH RNA binding domain containing, signal transduction associated 2

HGNC Previous Symbols

KHDRBS2-OT1; KHDRBS2-OT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
4 papers
NM_152688.4
p.R168C
c.502C>T
3 papers
NM_152688.4
p.P333L
c.998C>T
3 papers
NM_152688.4
p.E343D
c.1029A>T
3 papers
NM_152688.4
p.E343D
c.1029A>C
2 papers
NM_152688.4
p.P83L
c.248C>T
2 papers
NM_152688.4
p.S87F
c.260C>T
2 papers
NM_152688.4
p.A293V
c.878C>T
1 paper
NM_152688.4
p.A24V
c.71C>T
1 paper
NM_152688.4
p.R26R
c.78C>G
1 paper
NM_152688.4
p.E30K
c.88G>A
1 paper
NM_152688.4
p.E31Splc
c.91+66G>C
1 paper
NM_152688.4
p.E33K
c.97G>A
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