Varaico: Literature-Extracted Genetic Variants

Gene:SRMS
Variant:p.P48H

SRMS

49 papers

Pfam Domains

SH2aa 120–197UCSCSH2 domain
PK_Tyr_Ser-Thraa 230–480UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

HGNC Previous Symbol

C20orf148

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080823.4
p.P48H
c.143C>A
Surrounding Variants
1 paper
NM_080823.4
p.T43K
c.128C>A
1 paper
NM_080823.4
p.D61N
c.181G>A
1 paper
NM_080823.4
p.R65W
c.193C>T
1 paper
NM_080823.4
p.R65Q
c.194G>A
1 paper
NM_080823.4
p.P21P
c.63G>A
1 paper
NM_080823.4
p.F15_W16del1
c.44_46delAGA
1 paper
NM_080823.4
p.A10S
c.28G>T
1 paper
NM_080823.4
p.M1insFs
c.1dupA
1 paper
NM_080823.4
p.M1V
c.1A>G
1 paper
NM_080823.4
p.V102M
c.304G>A
1 paper
NM_080823.4
p.P112A
c.334C>G
1 paper
NM_080823.4
p.R127W
c.379C>T
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