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.I102L

c.304A>T

Surrounding Variants

1 paper

NM_138394.4

p.I102L

c.304A>C

1 paper

NM_138394.4

p.G82A

c.245G>C

1 paper

NM_138394.4

p.G66D

c.197G>A

1 paper

NM_138394.4

p.E64insFs

c.190_191insG

1 paper

NM_138394.4

p.M108L

c.322A>T

1 paper

NM_138394.4

p.C127F

c.380G>T

1 paper

NM_138394.4

p.F144insFs

c.431_432insG

1 paper

NM_138394.4

p.G164R

c.490G>C

1 paper

NM_138394.4

p.G164R

c.490G>A

2 papers

NM_138394.4

p.P176L

c.527C>T

2 papers

NM_138394.4

p.M209I

c.627G>T

2 papers

NM_138394.4

p.M209I

c.627G>C