Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.Q350_V351Splc

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
3 papers
NM_194277.3
p.Q350_V351Splc
c.1050+1G>A
Surrounding Variants
4 papers
NM_194277.3
p.Q350_V351Splc
c.1050+1G>C
3 papers
NM_194277.3
p.Q350_V351Splc
c.1050+5G>A
1 paper
NM_194277.3
p.Q350_V351Splc
c.1050+6G>C
1 paper
NM_194277.3
p.V347A
c.1040T>C
1 paper
NM_194277.3
p.Q350_V351Splc
c.1050+12G>A
1 paper
NM_194277.3
p.D346H
c.1036G>C
1 paper
NM_194277.3
p.L344L
c.1032C>T
1 paper
NM_194277.3
p.L343delFs
c.1029delG
1 paper
NM_194277.3
p.P341_L344delFs
c.1023_1030del8
1 paper
NM_194277.3
p.L344F
c.1030C>T
1 paper
NM_194277.3
p.L344fs
c.1030_1031fs
1 paper
NM_194277.3
p.Q350_V351Splc
c.1050+22A>G
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