Varaico: Literature-Extracted Genetic Variants

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.R74L

c.221G>T

Surrounding Variants

1 paper

NM_014771.4

p.E75G

c.224A>G

1 paper

NM_014771.4

p.R76*

c.226C>T

1 paper

NM_014771.4

p.K79fs

c.235_236fs

1 paper

NM_014771.4

p.L80insFs

c.238dupT

1 paper

NM_014771.4

p.K57E

c.169A>G

1 paper

NM_014771.4

p.R96C

c.286C>T

1 paper

NM_014771.4

p.M47T

c.140T>C

1 paper

NM_014771.4

p.R110Q

c.329G>A

1 paper

NM_014771.4

p.E113D

c.339G>C

1 paper

NM_014771.4

p.E113D

c.339G>T

1 paper

NM_014771.4

p.E117*

c.349G>T

1 paper

NM_014771.4

p.L118L

c.352C>T