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

2 papers

NM_006372.5

p.R446*

c.1336C>T

Surrounding Variants

1 paper

NM_006372.5

p.R448C

c.1342C>T

1 paper

NM_006372.5

p.Y460*

c.1380T>G

1 paper

NM_006372.5

p.Y460*

c.1380T>A

2 papers

NM_006372.5

p.G471_Y472insFs

c.1413_1414insC

1 paper

NM_006372.5

p.P484S

c.1450C>T

1 paper

NM_006372.5

p.Y485F

c.1454A>T

1 paper

NM_006372.5

p.Y485*

c.1455C>G

1 paper

NM_006372.5

p.Y485*

c.1455C>A

1 paper

NM_006372.5

p.G487V

c.1460G>T

1 paper

NM_006372.5

p.Y488delFs

c.1462delA

1 paper

NM_006372.5

p.R520*

c.1558A>T

1 paper

NM_006372.5

p.Q525L

c.1574A>T