Varaico: Literature-Extracted Genetic Variants

LRPPRC

484 papers

RefSeq Summary

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organizat...

Pfam Domains

PPRaa 198–228UCSCPPR repeat

PPRaa 233–263UCSCPPR repeat

PPRaa 714–741UCSCPPR repeat

PPRaa 751–779UCSCPPR repeat

PPRaa 1319–1348UCSCPPR repeat

Gene Aliases

HGNC Name

leucine rich pentatricopeptide repeat containing

HGNC Previous Symbol

LSFC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133259.4

p.S72insFs

c.216dupC

Surrounding Variants

1 paper

NM_133259.4

p.T73I

c.218C>T

1 paper

NM_133259.4

p.E71K

c.211G>A

1 paper

NM_133259.4

p.E70E

c.210G>A

1 paper

NM_133259.4

p.S76A

c.226T>G

1 paper

NM_133259.4

p.S76P

c.226T>C

2 papers

NM_133259.4

p.E70K

c.208G>A

2 papers

NM_133259.4

p.Q82*

c.244C>T

4 papers

NM_133259.4

p.Q82Q

c.246G>A

1 paper

NM_133259.4

p.D84V

c.251A>T

1 paper

NM_133259.4

p.W85G

c.253T>G

5 papers

NM_133259.4

p.L58L

c.174G>C

1 paper

NM_133259.4

p.A56G

c.167C>G