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

1–12 of 218 variants

6 papers

NM_001366299.1

p.V151I

c.451G>A

5 papers

NM_001366299.1

p.V201I

c.601G>A

3 papers

NM_001366299.1

p.A86D

c.257C>A

3 papers

NM_001366299.1

p.D116A

c.347A>C

3 papers

NM_001366299.1

p.G163R

c.487G>C

3 papers

NM_001366299.1

p.G163R

c.487G>A

3 papers

NM_001366299.1

p.I170N

c.509T>A

2 papers

NM_001366299.1

p.P11P

c.33C>G

2 papers

NM_001366299.1

p.G47D

c.140G>A

2 papers

NM_001366299.1

p.A92S

c.274G>T

2 papers

NM_001366299.1

p.D116N

c.346G>A

2 papers

NM_001366299.1

p.S174A

c.520T>G