Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.K269Q

FRMD7

169 papers

Pfam Domains

FERM_Naa 6–69UCSCFERM N-terminal domain
FERM_Maa 84–192UCSCFERM central domain
FERM_Caa 196–286UCSCFERM C-terminal PH-like domain
FAaa 291–334UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

FERM domain containing 7

HGNC Previous Symbols

NYS; NYS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_194277.3
p.K269Q
c.805A>C
Surrounding Variants
3 papers
NM_194277.3
p.W268C
c.804G>T
3 papers
NM_194277.3
p.W268C
c.804G>C
1 paper
NM_194277.3
p.T270I
c.809C>T
5 papers
NM_194277.3
p.F267L
c.801C>G
8 papers
NM_194277.3
p.F267L
c.801C>A
1 paper
NM_194277.3
p.C271G
c.811T>G
5 papers
NM_194277.3
p.C271R
c.811T>C
5 papers
NM_194277.3
p.F267L
c.799T>C
11 papers
NM_194277.3
p.C271S
c.811T>A
1 paper
NM_194277.3
p.A266A
c.798T>C
13 papers
NM_194277.3
p.C271F
c.812G>T
11 papers
NM_194277.3
p.C271S
c.812G>C
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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."