Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS2
Variant:p.T222I

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.T222I
c.665C>T
Surrounding Variants
1 paper
NM_152688.4
p.R224W
c.670C>T
1 paper
NM_152688.4
p.R224L
c.671G>T
1 paper
NM_152688.4
p.R224R
c.672G>A
1 paper
NM_152688.4
p.G225E
c.674G>A
1 paper
NM_152688.4
p.R218Q
c.653G>A
1 paper
NM_152688.4
p.R230H
c.689G>A
1 paper
NM_152688.4
p.L233R
c.698T>G
1 paper
NM_152688.4
p.V242V
c.726C>T
1 paper
NM_152688.4
p.R246*
c.736C>T
1 paper
NM_152688.4
p.R246Q
c.737G>A
1 paper
NM_152688.4
p.A247G
c.740C>G
1 paper
NM_152688.4
p.G249R
c.745G>C
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