Varaico: Literature-Extracted Genetic Variants

RNF8

117 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH...

Pfam Domains

FHAaa 38–109UCSCFHA domain

zf-C3HC4_3aa 399–447UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 8

HGNC Alias Symbol

KIAA0646

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003958.4

p.T448T

c.1344G>A

Surrounding Variants

1 paper

NM_003958.4

p.T448M

c.1343C>T

1 paper

NM_003958.4

p.L451*

c.1352T>A

1 paper

NM_003958.4

p.I439V

c.1315A>G

1 paper

NM_003958.4

p.K459K

c.1377G>A

1 paper

NM_003958.4

p.M460I

c.1380G>A

1 paper

NM_003958.4

p.M460I

c.1380G>C

1 paper

NM_003958.4

p.M460I

c.1380G>T

1 paper

NM_003958.4

p.S465R

c.1393A>C

1 paper

NM_003958.4

p.S465R

c.1395C>A

1 paper

NM_003958.4

p.S465R

c.1395C>G

1 paper

NM_003958.4

p.R479G

c.1435C>G

1 paper

NM_003958.4

p.E412_A413Splc

c.1237-6C>T