Varaico: Literature-Extracted Genetic Variants

Gene:FAM13C
Variant:p.P147S

FAM13C

42 papers

Pfam Domains

FAM13Aaa 510–551UCSCFAM13A-like domain
FAM13Aaa 510–579UCSCFAM13A-like domain

Gene Aliases

HGNC Name

family with sequence similarity 13 member C

HGNC Previous Symbol

FAM13C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198215.4
p.P147S
c.439C>T
Surrounding Variants
2 papers
NM_198215.4
p.R144*
c.430C>T
1 paper
NM_198215.4
p.H129Q
c.387T>G
1 paper
NM_198215.4
p.H129Q
c.387T>A
1 paper
NM_198215.4
p.V122M
c.364G>A
1 paper
NM_198215.4
p.E119Q
c.355G>C
1 paper
NM_198215.4
p.E119K
c.355G>A
1 paper
NM_198215.4
p.V113G
c.338T>G
1 paper
NM_198215.4
p.E109V
c.326A>T
1 paper
NM_198215.4
p.R148Splc
c.443+2272C>T
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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."