Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.S339C

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
2 papers
NM_194277.3
p.S339C
c.1016C>G
Surrounding Variants
2 papers
NM_194277.3
p.S340fs
c.1018_1019fs
14 papers
NM_194277.3
p.S340L
c.1019C>T
1 paper
NM_194277.3
p.S340delFs
c.1018delA
2 papers
NM_194277.3
p.D342fs
c.1024_1025fs
1 paper
NM_194277.3
p.D342A
c.1025A>C
1 paper
NM_194277.3
p.D342E
c.1026C>G
1 paper
NM_194277.3
p.Q336insFs
c.1006_1007insG
1 paper
NM_194277.3
p.D342E
c.1026C>A
1 paper
NM_194277.3
p.R335Q
c.1004G>A
23 papers
NM_194277.3
p.R335*
c.1003C>T
1 paper
NM_194277.3
p.L344F
c.1030C>T
1 paper
NM_194277.3
p.L344fs
c.1030_1031fs
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