Varaico: Literature-Extracted Genetic Variants

Gene:C2CD4C
Variant:p.L69M

C2CD4C

29 papers

Pfam Domains

C2aa 320–419UCSCC2 domain

Gene Aliases

HGNC Name

C2 calcium dependent domain containing 4C

HGNC Previous Symbols

KIAA1957; FAM148C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136263.2
p.L69M
c.205C>A
Surrounding Variants
1 paper
NM_001136263.2
p.T73M
c.218C>T
1 paper
NM_001136263.2
p.S58insFs
c.173_174insC
1 paper
NM_001136263.2
p.S58fs
c.172_173fs
1 paper
NM_001136263.2
p.K55fs
c.163_164fs
1 paper
NM_001136263.2
p.P53delFs
c.157delG
1 paper
NM_001136263.2
p.P53fs
c.157_158fs
1 paper
NM_001136263.2
p.A98V
c.293C>T
2 papers
NM_001136263.2
p.R13W
c.37C>T
1 paper
NM_001136263.2
p.T126A
c.376A>G
1 paper
NM_001136263.2
p.M1K
c.2T>A
1 paper
NM_001136263.2
p.S137F
c.410C>T
1 paper
NM_001136263.2
p.T146M
c.437C>T
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