Varaico: Literature-Extracted Genetic Variants

Gene:REP15
Variant:p.L48_C49delFs

REP15

19 papers

RefSeq Summary

The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided ...

Pfam Domains

Rab15_effectoraa 5–235UCSCRab15 effector

Gene Aliases

HGNC Name

RAB15 effector protein

HGNC Alias Symbol

RAB15EP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029874.3
p.L48_C49delFs
c.144_145delCT
Surrounding Variants
1 paper
NM_001029874.3
p.C49fs
c.145_146fs
1 paper
NM_001029874.3
p.P45P
c.135A>G
1 paper
NM_001029874.3
p.L39F
c.115C>T
1 paper
NM_001029874.3
p.E57D
c.171G>C
1 paper
NM_001029874.3
p.E57D
c.171G>T
1 paper
NM_001029874.3
p.G99E
c.296G>A
1 paper
NM_001029874.3
p.S100S
c.300C>T
1 paper
NM_001029874.3
p.S100_N101delins
c.300_301delinsTG
5 papers
NM_001029874.3
p.N101D
c.301A>G
1 paper
NM_001029874.3
p.P119T
c.355C>A
1 paper
NM_001029874.3
p.P125A
c.373C>G
1 paper
NM_001029874.3
p.R144_F145del2
c.430_434del6
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