Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.S84delFs

RAB40AL

67 papers

RefSeq Summary

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duche...

Pfam Domains

Rasaa 16–176UCSCRas family
SOCS_boxaa 188–223UCSCSOCS box

Gene Aliases

HGNC Name

RAB40A like

HGNC Alias Symbols

RAR2; RLGP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031834.1
p.S84delFs
c.250_251delTC
Surrounding Variants
1 paper
NM_001031834.1
p.S82T
c.244T>A
2 papers
NM_001031834.1
p.Q61L
c.182A>T
2 papers
NM_001031834.1
p.Q61*
c.181C>T
5 papers
NM_001031834.1
p.D59E
c.177C>A
2 papers
NM_001031834.1
p.D59E
c.177C>G
9 papers
NM_001031834.1
p.D59G
c.176A>G
2 papers
NM_001031834.1
p.D59delins
c.176_177delinsGA
1 paper
NM_001031834.1
p.R107L
c.320G>T
1 paper
NM_001031834.1
p.I56M
c.168C>G
1 paper
NM_001031834.1
p.T54A
c.160A>G
1 paper
NM_001031834.1
p.N126I
c.377A>T
1 paper
NM_001031834.1
p.E40K
c.118G>A
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