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.K424T

c.1271A>C

Surrounding Variants

1 paper

NM_006372.5

p.R416_K417delFs

c.1247_1250del4

1 paper

NM_006372.5

p.R416fs

c.1246_1247fs

2 papers

NM_006372.5

p.P408_P409insFs

c.1224_1225insC

1 paper

NM_006372.5

p.E390*

c.1168G>T

1 paper

NM_006372.5

p.M388V

c.1162A>G

1 paper

NM_006372.5

p.A387D

c.1160C>A

1 paper

NM_006372.5

p.Y373F

c.1118A>T

1 paper

NM_006372.5

p.T348_E355delFs

c.1042_1064del23

1 paper

NM_006372.5

p.E351*

c.1051G>T

1 paper

NM_006372.5

p.T348fs

c.1042_1043fs

2 papers

NM_006372.5

p.R446*

c.1336C>T

1 paper

NM_006372.5

p.R448C

c.1342C>T