Varaico: Literature-Extracted Genetic Variants

Gene:SRMS
Variant:p.V457L

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.V457L
c.1369G>C
Surrounding Variants
1 paper
NM_080823.4
p.V457L
c.1369G>T
1 paper
NM_080823.4
p.V455F
c.1363G>T
1 paper
NM_080823.4
p.A453T
c.1357G>A
1 paper
NM_080823.4
p.E461E
c.1383G>A
1 paper
NM_080823.4
p.S465S
c.1395C>T
1 paper
NM_080823.4
p.R447S
c.1339C>A
1 paper
NM_080823.4
p.L480fs
c.1438_1439fs
1 paper
NM_080823.4
p.P488_*489delFs
c.1464_1465delAG
1 paper
NM_080823.4
p.Y422C
c.1265A>G
1 paper
NM_080823.4
p.Y380F
c.1139A>T
2 papers
NM_080823.4
p.D377E
c.1131C>G
2 papers
NM_080823.4
p.D377E
c.1131C>A
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