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

1–12 of 94 variants

2 papers

NM_006372.5

p.F210S

c.629T>C

2 papers

NM_006372.5

p.R286_G287delFs

c.858_859delCT

2 papers

NM_006372.5

p.P408_P409insFs

c.1224_1225insC

2 papers

NM_006372.5

p.R446*

c.1336C>T

2 papers

NM_006372.5

p.G471_Y472insFs

c.1413_1414insC

1 paper

NM_006372.5

p.M1L

c.1A>T

1 paper

NM_006372.5

p.M1L

c.1A>C

1 paper

NM_006372.5

p.M1insFs

c.1dupA

1 paper

NM_006372.5

p.M1insFs

c.2dupT

1 paper

NM_006372.5

p.A2G

c.5C>G

1 paper

NM_006372.5

p.M1insFs

c.3dupG

1 paper

NM_006372.5

p.I22L

c.64A>C