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.K71M

c.212A>T

Surrounding Variants

1 paper

NM_001366299.1

p.K71E

c.211A>G

1 paper

NM_001366299.1

p.D72A

c.215A>C

1 paper

NM_001366299.1

p.G66S

c.196G>A

1 paper

NM_001366299.1

p.A77S

c.229G>T

1 paper

NM_001366299.1

p.A75_D76del2

c.223_227del6

1 paper

NM_001366299.1

p.G64R

c.190G>C

1 paper

NM_001366299.1

p.G64R

c.190G>A

1 paper

NM_001366299.1

p.A81V

c.242C>T

1 paper

NM_001366299.1

p.S59P

c.175T>C

1 paper

NM_001366299.1

p.A55T

c.163G>A

1 paper

NM_001366299.1

p.G49G

c.147C>T

1 paper

NM_001366299.1

p.G47A

c.140G>C