Varaico: Literature-Extracted Genetic Variants

Gene:SLC43A1
Variant:p.R296C

SLC43A1

42 papers

RefSeq Summary

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008].

Pfam Domains

MFS_1aa 70–385UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 43 member 1

HGNC Previous Symbol

POV1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003627.6
p.R296C
c.886C>T
Surrounding Variants
1 paper
NM_003627.6
p.V293D
c.878T>A
1 paper
NM_003627.6
p.S301F
c.902C>T
1 paper
NM_003627.6
p.M311I
c.933G>T
1 paper
NM_003627.6
p.M311I
c.933G>C
1 paper
NM_003627.6
p.M311I
c.933G>A
1 paper
NM_003627.6
p.R291Splc
c.872-59G>A
1 paper
NM_003627.6
p.Y331*
c.993C>G
1 paper
NM_003627.6
p.Y331*
c.993C>A
1 paper
NM_003627.6
p.E338D
c.1014G>T
1 paper
NM_003627.6
p.E338D
c.1014G>C
1 paper
NM_003627.6
p.L372fs
c.1114_1115fs
1 paper
NM_003627.6
p.G395V
c.1184G>T
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."