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.V152I

c.454G>A

Surrounding Variants

1 paper

NM_006372.5

p.Y153H

c.457T>C

1 paper

NM_006372.5

p.G146E

c.437G>A

1 paper

NM_006372.5

p.E163*

c.487G>T

1 paper

NM_006372.5

p.T138I

c.413C>T

1 paper

NM_006372.5

p.L173_F174insFs

c.519_520insC

1 paper

NM_006372.5

p.E175Q

c.523G>C

1 paper

NM_006372.5

p.E183Q

c.547G>C

1 paper

NM_006372.5

p.R192Fs

c.574delinsTTFs

1 paper

NM_006372.5

p.R192S

c.574C>A

1 paper

NM_006372.5

p.G200S

c.598G>A

1 paper

NM_006372.5

p.F207L

c.619T>C

1 paper

NM_006372.5

p.F207L

c.621T>G