Varaico: Literature-Extracted Genetic Variants

HNRNPLL

26 papers

RefSeq Summary

HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell developm...

Pfam Domains

RRM_1aa 78–130UCSCRNA recognition motif

RRM_8aa 159–244UCSCRRM-like domain

RRM_5aa 311–433UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 446–541UCSCRRM domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein L like

HGNC Previous Symbol

HNRPLL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138394.4

p.V412delFs

c.1234delC

Surrounding Variants

2 papers

NM_138394.4

p.M432V

c.1294A>G

1 paper

NM_138394.4

p.G442C

c.1324G>T

1 paper

NM_138394.4

p.L402I

c.1204C>A

1 paper

NM_138394.4

p.K366N

c.1098A>T

1 paper

NM_138394.4

p.K366N

c.1098A>C

1 paper

NM_138394.4

p.N348S

c.1043A>G

1 paper

NM_138394.4

p.A322T

c.964G>A

1 paper

NM_138394.4

p.P301S

c.901C>T

1 paper

NM_138394.4

p.R273C

c.817C>T