Varaico: Literature-Extracted Genetic Variants

Gene:RNF40
Variant:p.L508delFs

RNF40

82 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor p...

Pfam Domains

CC_Bre1aa 79–268UCSCBre1, coiled-coil containing domain
BRE1Baa 379–528UCSCBRE1B-like domain
zf-C3HC4aa 948–986UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 40

HGNC Alias Symbols

KIAA0661; RBP95; BRE1B; STARING

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014771.4
p.L508delFs
c.1523delT
Surrounding Variants
1 paper
NM_014771.4
p.N492T
c.1475A>C
1 paper
NM_014771.4
p.Q491Q
c.1473A>G
1 paper
NM_014771.4
p.S489R
c.1467T>A
1 paper
NM_014771.4
p.S489R
c.1467T>G
1 paper
NM_014771.4
p.S489R
c.1465A>C
1 paper
NM_014771.4
p.M483T
c.1448T>C
1 paper
NM_014771.4
p.I479M
c.1437C>G
2 papers
NM_014771.4
p.P530P
c.1590C>A
1 paper
NM_014771.4
p.S556N
c.1667G>A
1 paper
NM_014771.4
p.P566_G569del4
c.1696_1706del12
1 paper
NM_014771.4
p.S585F
c.1754C>T
1 paper
NM_014771.4
p.F589V
c.1765T>G
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."