Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL1
Variant:p.V244A

RHBDL1

61 papers

RefSeq Summary

This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid famil...

Pfam Domains

Rhomboidaa 242–394UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid like 1

HGNC Previous Names

rhomboid (veinlet, Drosophila)-like; rhomboid, veinlet-like 1 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278720.2
p.V244A
c.731T>C
Surrounding Variants
1 paper
NM_001278720.2
p.S247A
c.739T>G
2 papers
NM_001278720.2
p.D238N
c.712G>A
1 paper
NM_001278720.2
p.M268R
c.803T>G
1 paper
NM_001278720.2
p.L204P
c.611T>C
1 paper
NM_001278720.2
p.G197delFs
c.591delG
1 paper
NM_001278720.2
p.E194K
c.580G>A
1 paper
NM_001278720.2
p.V292M
c.874G>A
1 paper
NM_001278720.2
p.P298R
c.893C>G
1 paper
NM_001278720.2
p.M189L
c.565A>C
1 paper
NM_001278720.2
p.M189L
c.565A>T
1 paper
NM_001278720.2
p.W181insFs
c.541_542insA
1 paper
NM_001278720.2
p.E331K
c.991G>A
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."