Varaico: Literature-Extracted Genetic Variants

PRMT5

146 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histon...

Pfam Domains

PRMT5_TIMaa 37–290UCSCPRMT5 TIM barrel domain

PRMT5aa 295–464UCSCPRMT5 arginine-N-methyltransferase

PRMT5_Caa 467–635UCSCPRMT5 oligomerisation domain

Gene Aliases

HGNC Name

protein arginine methyltransferase 5

HGNC Previous Symbols

HRMT1L5; SKB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006109.5

p.C605*

c.1815C>A

Surrounding Variants

1 paper

NM_006109.5

p.C605C

c.1815C>T

1 paper

NM_006109.5

p.S606R

c.1816A>C

1 paper

NM_006109.5

p.S606S

c.1818C>T

1 paper

NM_006109.5

p.S606R

c.1818C>G

1 paper

NM_006109.5

p.S606R

c.1818C>A

1 paper

NM_006109.5

p.K610*

c.1828A>T

3 papers

NM_006109.5

p.V600E

c.1799T>A

2 papers

NM_006109.5

p.W612L

c.1835G>T

1 paper

NM_006109.5

p.W612*

c.1835G>A

1 paper

NM_006109.5

p.W612*

c.1836G>A

1 paper

NM_006109.5

p.E614D

c.1842G>T

1 paper

NM_006109.5

p.E614D

c.1842G>C