Varaico: Literature-Extracted Genetic Variants

KHSRP

435 papers

RefSeq Summary

The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1...

Pfam Domains

KH_1aa 146–210UCSCKH domain

KH_1aa 235–301UCSCKH domain

KH_1aa 324–388UCSCKH domain

KH_1aa 426–493UCSCKH domain

FUBP_Caa 609–635UCSCFar upstream element-binding protein, C-terminal

FUBP_Caa 665–687UCSCFar upstream element-binding protein, C-terminal

Gene Aliases

HGNC Name

KH-type splicing regulatory protein

HGNC Alias Symbols

KSRP; FUBP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366299.1

p.P34Q

c.101C>A

Surrounding Variants

1 paper

NM_001366299.1

p.G29G

c.87C>T

1 paper

NM_001366299.1

p.R40G

c.118C>G

1 paper

NM_001366299.1

p.G27R

c.79G>A

1 paper

NM_001366299.1

p.G25_A26delFs

c.75_76delCG

1 paper

NM_001366299.1

p.A23T

c.67G>A

1 paper

NM_001366299.1

p.G47A

c.140G>C

2 papers

NM_001366299.1

p.G47D

c.140G>A

1 paper

NM_001366299.1

p.G20D

c.59G>A

1 paper

NM_001366299.1

p.G49G

c.147C>T

1 paper

NM_001366299.1

p.A17insFs

c.50dupC

1 paper

NM_001366299.1

p.A55T

c.163G>A

1 paper

NM_001366299.1

p.G12A

c.35G>C