Varaico: Literature-Extracted Genetic Variants

Gene:MRAP2
Variant:p.S15L

MRAP2

62 papers

RefSeq Summary

This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor traffick...

Pfam Domains

MRAPaa 13–99UCSCMelanocortin-2 receptor accessory protein family
MRAPaa 13–99UCSCMelanocortin-2 receptor accessory protein family

Gene Aliases

HGNC Name

melanocortin 2 receptor accessory protein 2

HGNC Previous Symbol

C6orf117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_138409.4
p.S15L
c.44C>T
Surrounding Variants
1 paper
NM_138409.4
p.Q14Q
c.42A>G
4 papers
NM_138409.4
p.Q13E
c.37C>G
1 paper
NM_138409.4
p.T11N
c.32C>A
7 papers
NM_138409.4
p.E24*
c.70G>T
1 paper
NM_138409.4
p.E26K
c.76G>A
3 papers
NM_138409.4
p.R5del1
c.13_14delAGG
1 paper
NM_138409.4
p.Q4*
c.10C>T
4 papers
NM_138409.4
p.A3T
c.7G>A
3 papers
NM_138409.4
p.A3S
c.7G>T
3 papers
NM_138409.4
p.A3_I7del5
c.7_20del15
1 paper
NM_138409.4
p.Y28C
c.83A>G
3 papers
NM_138409.4
p.S2delFs
c.5delC
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