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

2 papers

NM_001366299.1

p.P11P

c.33C>G

Surrounding Variants

1 paper

NM_001366299.1

p.G12R

c.34G>A

1 paper

NM_001366299.1

p.P11L

c.32C>T

1 paper

NM_001366299.1

p.G12A

c.35G>C

1 paper

NM_001366299.1

p.G12E

c.35G>A

1 paper

NM_001366299.1

p.P10insFs

c.29_30insA

1 paper

NM_001366299.1

p.P9T

c.25C>A

1 paper

NM_001366299.1

p.S5R

c.15C>G

1 paper

NM_001366299.1

p.A17insFs

c.50dupC

1 paper

NM_001366299.1

p.Y4Y

c.12C>T

1 paper

NM_001366299.1

p.G20D

c.59G>A

1 paper

NM_001366299.1

p.D3N

c.7G>A

1 paper

NM_001366299.1

p.M1I

c.3G>A