Varaico: Literature-Extracted Genetic Variants

PRPF6

159 papers

RefSeq Summary

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also...

Pfam Domains

PRP1_Naa 13–169UCSCPRP1 splicing factor, N-terminal

TPR_19aa 618–681UCSCTetratricopeptide repeat

TPR_16aa 680–743UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

pre-mRNA processing factor 6

HGNC Alias Symbols

bB152O15.1; ANT-1; U5-102K; Prp6; hPrp6; SNRNP102; RP60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_012469.4

p.R900H

c.2699G>A

Surrounding Variants

1 paper

NM_012469.4

p.G909W

c.2725G>T

2 papers

NM_012469.4

p.V915M

c.2743G>A

1 paper

NM_012469.4

p.R931_L932ins4

c.2791_2795ins12

1 paper

NM_012469.4

p.L932L

c.2794C>T

1 paper

NM_012469.4

p.R936G

c.2806C>G

1 paper

NM_012469.4

p.R936H

c.2807G>A

1 paper

NM_012469.4

p.K938E

c.2812A>G

1 paper

NM_012469.4

p.T940S

c.2818A>T

1 paper

NM_012469.4

p.T940S

c.2819C>G

1 paper

NM_012469.4

p.F941_*942del1

c.2822_2824delTCT

1 paper

NM_012469.4

p.F880delins

c.2638_2639delinsGC

1 paper

NM_012469.4

p.K856*

c.2566A>T