Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.S247P

RAF1

1,521 papers

RefSeq Summary

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to w...

Pfam Domains

RBDaa 57–131UCSCRaf-like Ras-binding domain
C1_1aa 139–187UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
PK_Tyr_Ser-Thraa 349–606UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Raf-1 proto-oncogene, serine/threonine kinase

HGNC Alias Symbols

Raf-1; c-Raf; CRAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002880.4
p.S247P
c.739T>C
Surrounding Variants
1 paper
NM_002880.4
p.S247Y
c.740C>A
3 papers
NM_002880.4
p.E248K
c.742G>A
1 paper
NM_002880.4
p.P245S
c.733C>T
2 papers
NM_002880.4
p.S244C
c.730A>T
1 paper
NM_002880.4
p.S243C
c.728C>G
1 paper
NM_002880.4
p.L251V
c.751C>G
1 paper
NM_002880.4
p.L251P
c.752T>C
1 paper
NM_002880.4
p.S252C
c.755C>G
1 paper
NM_002880.4
p.N241T
c.722A>C
1 paper
NM_002880.4
p.Q253*
c.757C>T
1 paper
NM_002880.4
p.S252_Q253del1
c.756_758delTGG
3 papers
NM_002880.4
p.R254fs
c.760_761fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."