Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS2
Variant:p.A293V

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
Selected Variant
2 papers
NM_152688.4
p.A293V
c.878C>T
Surrounding Variants
1 paper
NM_152688.4
p.T296I
c.887C>T
1 paper
NM_152688.4
p.G275C
c.823G>T
1 paper
NM_152688.4
p.Y270_G271Splc
c.811-4T>G
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