Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS2
Variant:p.E33K

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
1 paper
NM_152688.4
p.E33K
c.97G>A
Surrounding Variants
1 paper
NM_152688.4
p.D39H
c.115G>C
1 paper
NM_152688.4
p.E43K
c.127G>A
1 paper
NM_152688.4
p.K42_E43delins
c.126_127delinsAA
1 paper
NM_152688.4
p.K48R
c.143A>G
1 paper
NM_152688.4
p.I58R
c.173T>G
1 paper
NM_152688.4
p.I66T
c.197T>C
1 paper
NM_152688.4
p.V68F
c.202G>T
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