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

1 paper

NM_006559.3

p.L274F

c.822G>C

Surrounding Variants

1 paper

NM_006559.3

p.N275I

c.824A>T

2 papers

NM_006559.3

p.S272A

c.814T>G

1 paper

NM_001271878.2

p.E240_P241delFs

c.720_723del4

1 paper

NM_006559.3

p.C264delFs

c.790delT

1 paper

NM_006559.3

p.V286A

c.857T>C

2 papers

NM_006559.3

p.D262V

c.785A>T

2 papers

NM_006559.3

p.D262N

c.784G>A

1 paper

NM_006559.3

p.V288L

c.862G>C

1 paper

NM_001271878.2

p.V249V

c.747G>A

1 paper

NM_006559.3

p.M260K

c.779T>A

1 paper

NM_006559.3

p.M259delFs

c.777delG

1 paper

NM_006559.3

p.G290A

c.869G>C