Varaico: Literature-Extracted Genetic Variants

Gene:FAM13A
Variant:p.L53I

FAM13A

65 papers

Pfam Domains

RhoGAPaa 59–205UCSCRhoGAP domain
RhoGAPaa 59–205UCSCRhoGAP domain
FAM13Aaa 947–1016UCSCFAM13A-like domain

Gene Aliases

HGNC Name

family with sequence similarity 13 member A

HGNC Previous Symbol

FAM13A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014883.4
p.L53I
c.157C>A
Surrounding Variants
1 paper
NM_014883.4
p.E49K
c.145G>A
1 paper
NM_014883.4
p.L48F
c.142C>T
1 paper
NM_014883.4
p.K39_G42delFs
c.116_126del11
1 paper
NM_014883.4
p.K39_G42del4
c.115_125del12
1 paper
NM_014883.4
p.I65fs
c.193_194fs
1 paper
NM_014883.4
p.I65delFs
c.195delT
1 paper
NM_014883.4
p.F35_T36ins7
c.103_107ins21
1 paper
NM_014883.4
p.A26insFs
c.77_78ins7
1 paper
NM_014883.4
p.M21V
c.61A>G
1 paper
NM_014883.4
p.A13_A14delFs
c.39_42del4
2 papers
NM_014883.4
p.A14V
c.41C>T
1 paper
NM_014883.4
p.K12insFs
c.35_36ins7
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."