Varaico: Literature-Extracted Genetic Variants

ZRSR2

425 papers

RefSeq Summary

This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRN...

Pfam Domains

zf-CCCHaa 167–193UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

RRM_1aa 240–298UCSCRNA recognition motif

Gene Aliases

HGNC Name

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

HGNC Previous Symbol

U2AF1L2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005089.4

p.E133*

c.397G>T

Surrounding Variants

1 paper

NM_005089.4

p.E133fs

c.397_398fs

19 papers

NM_005089.4

p.E133G

c.398A>G

1 paper

NM_005089.4

p.E133delFs

c.398_399delAG

1 paper

NM_005089.4

p.E131fs

c.391_392fs

1 paper

NM_005089.4

p.E131delFs

c.391_392delGA

2 papers

NM_005089.4

p.K130*

c.388A>T

1 paper

NM_005089.4

p.K129fs

c.385_386fs

1 paper

NM_005089.4

p.K129*

c.385A>T

2 papers

NM_005089.4

p.R126Q

c.377G>A

15 papers

NM_005089.4

p.R126P

c.377G>C

18 papers

NM_005089.4

p.R126*

c.376C>T

1 paper

NM_005089.4

p.K125fs

c.373_374fs