Varaico: Literature-Extracted Genetic Variants

HNRNPL

95 papers

RefSeq Summary

Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear...

Pfam Domains

RRM_1aa 104–163UCSCRNA recognition motif

RRM_8aa 184–270UCSCRRM-like domain

RRM_5aa 356–480UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

RRM_10aa 493–587UCSCRRM domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein L

HGNC Previous Symbol

HNRPL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 92 variants

3 papers

NM_001533.3

p.P337fs

c.1009_1010fs

3 papers

NM_001533.3

p.P367P

c.1101A>C

2 papers

NM_001533.3

p.K277*

c.829A>T

2 papers

NM_001533.3

p.Y359F

c.1076A>T

1 paper

NM_001533.3

p.A9P

c.25G>C

1 paper

NM_001533.3

p.R12W

c.34C>T

1 paper

NM_001533.3

p.Q20E

c.58C>G

1 paper

NM_001533.3

p.Q21*

c.61C>T

1 paper

NM_001533.3

p.A38_G39del1

c.113_115delCCG

1 paper

NM_001533.3

p.T63delFs

c.189delA

1 paper

NM_001533.3

p.G89A

c.266G>C

1 paper

NM_001533.3

p.G89G

c.267G>C