Varaico: Literature-Extracted Genetic Variants

KHDRBS1

1,016 papers

RefSeq Summary

This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a ...

Pfam Domains

Qua1aa 102–153UCSCQua1 domain

KH-I_KHDC4-BBPaa 166–255UCSCKHDC4/BBP-like, KH-domain type I

Sam68-YYaa 366–415UCSCTyrosine-rich domain of Sam68

Gene Aliases

HGNC Name

KH RNA binding domain containing, signal transduction associated 1

HGNC Alias Symbols

Sam68; p62; FLJ34027

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006559.3

p.F118I

c.352T>A

Surrounding Variants

2 papers

NM_006559.3

p.F118S

c.353T>C

1 paper

NM_006559.3

p.T119A

c.355A>G

1 paper

NM_006559.3

p.S117A

c.349T>G

5 papers

NM_006559.3

p.P116P

c.348G>C

1 paper

NM_006559.3

p.H120insFs

c.359dupA

1 paper

NM_006559.3

p.D115E

c.345C>G

1 paper

NM_006559.3

p.D115_P116insFs

c.345_346insC

1 paper

NM_006559.3

p.L114L

c.342C>G

1 paper

NM_006559.3

p.L114_D115del1

c.341_343delTCG

2 papers

NM_006559.3

p.S113*

c.338C>A

3 papers

NM_006559.3

p.S113L

c.338C>T

1 paper

NM_006559.3

p.S113A

c.337T>G