Varaico: Literature-Extracted Genetic Variants

Gene:RCSD1
Variant:p.E347D

RCSD1

47 papers

Pfam Domains

CAP-ZIP_maa 44–187UCSCWASH complex subunit CAP-Z interacting, central region
RCSDaa 198–293UCSCRCSD region

Gene Aliases

HGNC Name

RCSD domain containing 1

HGNC Alias Symbols

MK2S4; MGC21854; CapZIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052862.4
p.E347D
c.1041G>C
Surrounding Variants
1 paper
NM_052862.4
p.E347D
c.1041G>T
1 paper
NM_052862.4
p.K346fs
c.1036_1037fs
1 paper
NM_052862.4
p.V361D
c.1082T>A
1 paper
NM_052862.4
p.V376L
c.1126G>C
1 paper
NM_052862.4
p.P379P
c.1137A>T
2 papers
NM_052862.4
p.A305T
c.913G>A
1 paper
NM_052862.4
p.R300S
c.900G>C
1 paper
NM_052862.4
p.R300S
c.900G>T
1 paper
NM_052862.4
p.P299L
c.896C>T
1 paper
NM_052862.4
p.G297E
c.890G>A
1 paper
NM_052862.4
p.E399E
c.1197G>A
1 paper
NM_052862.4
p.S284L
c.851C>T
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