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.R557C

c.1669C>T

Surrounding Variants

1 paper

NM_006372.5

p.G558C

c.1672G>T

1 paper

NM_006372.5

p.R565H

c.1694G>A

1 paper

NM_006372.5

p.G547C

c.1639G>T

1 paper

NM_006372.5

p.A542_Q543insFs

c.1626_1627ins26

1 paper

NM_006372.5

p.A542insFs

c.1624dupG

1 paper

NM_006372.5

p.S575T

c.1723T>A

1 paper

NM_006372.5

p.R577W

c.1729C>T

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.R578fs

c.1732_1733fs

NM_001159675.1

p.R543fs

c.1627_1628fs

1 paper

NM_006372.5

p.G534S

c.1600G>A

1 paper

NM_006372.5

p.N581S

c.1742A>G