Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS2
Variant:p.E343D

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
3 papers
NM_152688.4
p.E343D
c.1029A>C
Surrounding Variants
3 papers
NM_152688.4
p.E343D
c.1029A>T
1 paper
NM_152688.4
p.R342K
c.1025G>A
1 paper
NM_152688.4
p.G347C
c.1039G>T
1 paper
NM_152688.4
p.A337A
c.1011C>T
1 paper
NM_152688.4
p.A337T
c.1009G>A
3 papers
NM_152688.4
p.P333L
c.998C>T
1 paper
NM_152688.4
p.E321*
c.961G>T
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