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.G287fs

c.859_860fs

Surrounding Variants

1 paper

NM_006372.5

p.K283_R286delFs

c.847_857del11

2 papers

NM_006372.5

p.R286_G287delFs

c.858_859delCT

1 paper

NM_006372.5

p.N285insFs

c.854dupA

1 paper

NM_006372.5

p.N285fs

c.853_854fs

1 paper

NM_006372.5

p.V273I

c.817G>A

1 paper

NM_006372.5

p.S264I

c.791G>T

1 paper

NM_006372.5

p.F263_S264delFs

c.787_790del4

1 paper

NM_006372.5

p.F263fs

c.787_788fs

1 paper

NM_006372.5

p.K252T

c.755A>C

1 paper

NM_006372.5

p.F246V

c.736T>G

1 paper

NM_006372.5

p.L245P

c.734T>C

1 paper

NM_006372.5

p.V236delFs

c.706_707delAC