Varaico: Literature-Extracted Genetic Variants

SYNCRIP

80 papers

RefSeq Summary

This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alte...

Pfam Domains

hnRNP_Q_AcDaa 34–103UCSCHeterogeneous nuclear ribonucleoprotein Q acidic domain

RRM_1aa 66–134UCSCRNA recognition motif

RRM_1aa 147–214UCSCRNA recognition motif

RRM_1aa 164–232UCSCRNA recognition motif

RRM_1aa 242–304UCSCRNA recognition motif

Gene Aliases

HGNC Name

synaptotagmin binding cytoplasmic RNA interacting protein

HGNC Alias Symbols

NSAP1; GRY-RBP; dJ3J17.2; HNRPQ1; hnRNP-Q; HNRNPQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006372.5

p.F618fs

c.1852_1853fs

Surrounding Variants

1 paper

NM_006372.5

p.F618delFs

c.1854delA

1 paper

NM_006372.5

p.D616H

c.1846G>C

1 paper

NM_001159675.1

p.E577_F578insFs

c.1731_1732ins8

1 paper

NM_006372.5

p.N610K

c.1830C>A

1 paper

NM_006372.5

p.G602C

c.1804G>T

1 paper

NM_006372.5

p.H600_S601delins

c.1800_1801delinsTC

1 paper

NM_006372.5

p.Q596del1

c.1786_1787delTTG

1 paper

NM_006372.5

p.N581S

c.1742A>G

1 paper

NM_006372.5

p.R578fs

c.1732_1733fs

NM_001159675.1

p.R543fs

c.1627_1628fs

1 paper

NM_001159675.1

p.R542_R543insFs

c.1626_1627ins26

1 paper

NM_006372.5

p.R577_R578insFs

c.1731_1732ins8

1 paper

NM_006372.5

p.R577W

c.1729C>T