Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL1
Variant:p.E36*

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.E36*
c.106G>T
Surrounding Variants
1 paper
NM_001278720.2
p.L31L
c.93G>A
1 paper
NM_001278720.2
p.A81D
c.242C>A
1 paper
NM_001278720.2
p.E116K
c.346G>A
1 paper
NM_001278720.2
p.P132delFs
c.396delC
1 paper
NM_001278720.2
p.L140F
c.418C>T
1 paper
NM_001278720.2
p.S4S
c.12C>T
1 paper
NM_001278720.2
p.T160A
c.478A>G
1 paper
NM_001278720.2
p.K167Q
c.499A>C
1 paper
NM_001278720.2
p.Y172insFs
c.514_515insA
1 paper
NM_001278720.2
p.Y172fs
c.514_515fs
1 paper
NM_001278720.2
p.W181insFs
c.541_542insA
1 paper
NM_001278720.2
p.M189L
c.565A>C
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