Varaico: Literature-Extracted Genetic Variants

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

Gene Aliases

HGNC Name

melanocortin 2 receptor accessory protein 2

HGNC Previous Symbol

C6orf117

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_138409.4

p.S114A

c.340T>G

Surrounding Variants

8 papers

NM_138409.4

p.R113G

c.337A>G

13 papers

NM_138409.4

p.L115V

c.343C>G

1 paper

NM_138409.4

p.N109N

c.327C>T

8 papers

NM_138409.4

p.N121S

c.362A>G

14 papers

NM_138409.4

p.R125C

c.373C>T

2 papers

NM_138409.4

p.V103I

c.307G>A

11 papers

NM_138409.4

p.R125H

c.374G>A

7 papers

NM_138409.4

p.K102*

c.304A>T

4 papers

NM_138409.4

p.E99Q

c.295G>C

1 paper

NM_138409.4

p.L98_D101Fs

c.293_301delinsACFs

1 paper

NM_138409.4

p.L98fs

c.292_293fs

1 paper

NM_138409.4

p.K130R

c.389A>G