Varaico: Literature-Extracted Genetic Variants

Gene:SMAP1
Variant:p.K172R

SMAP1

33 papers

RefSeq Summary

The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved i...

Pfam Domains

ArfGapaa 29–122UCSCPutative GTPase activating protein for Arf

Gene Aliases

HGNC Name

small ArfGAP 1

HGNC Alias Symbols

FLJ13159; SMAP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001044305.3
p.K172R
c.515A>G
Surrounding Variants
2 papers
NM_001044305.3
p.K172fs
c.514_515fs
2 papers
NM_001044305.3
p.K172fs
c.514_515fs
1 paper
NM_001044305.3
p.E173fs
c.517_518fs
1 paper
NM_001044305.3
p.E169fs
c.505_506fs
4 papers
NM_001044305.3
p.K172delFs
c.515delA
3 papers
NM_001044305.3
p.A185V
c.554C>T
1 paper
NM_001044305.3
p.T189R
c.566C>G
1 paper
NM_001044305.3
p.E165K
c.493G>A
1 paper
NM_001044305.3
p.D160E
c.480C>A
1 paper
NM_001044305.3
p.D160E
c.480C>G
1 paper
NM_001044305.3
p.D160ins3
c.479_480ins9
1 paper
NM_001044305.3
p.A157V
c.470C>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."