Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.Y452*

PROM1

517 papers

RefSeq Summary

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem ...

Pfam Domains

Promininaa 18–820UCSCProminin

Gene Aliases

HGNC Name

prominin 1

HGNC Previous Symbols

PROML1; MCDR2; STGD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006017.3
p.Y452*
c.1356C>G
Surrounding Variants
10 papers
NM_006017.3
p.Y452fs
c.1354_1355fs
1 paper
NM_006017.3
p.Y452insFs
c.1355dupA
1 paper
NM_006017.3
p.Y452*
c.1356C>A
3 papers
NM_006017.3
p.Y453fs
c.1357_1358fs
1 paper
NM_006017.3
p.Y452F
c.1355A>T
45 papers
NM_006017.3
p.Y452insFs
c.1354_1355insT
21 papers
NM_006017.3
p.Y452fs
c.1354_1355fs
1 paper
NM_006017.3
p.F451ins2
c.1351_1352ins6
3 papers
NM_006017.3
p.G455R
c.1363G>C
5 papers
NM_006017.3
p.V449M
c.1345G>A
1 paper
NM_006017.3
p.L447_I448del2
c.1339_1343del6
1 paper
NM_006017.3
p.T446I
c.1337C>T
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