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.P309L

c.926C>T

Surrounding Variants

2 papers

NM_006559.3

p.P309S

c.925C>T

2 papers

NM_006559.3

p.G311_A312del2

c.931_935del6

1 paper

NM_006559.3

p.G307delFs

c.921delA

1 paper

NM_006559.3

p.A312delins

c.934_936delinsTGA

1 paper

NM_006559.3

p.R304delFs

c.912delT

1 paper

NM_006559.3

p.R315_P318delFs

c.944_953del10

1 paper

NM_006559.3

p.R315C

c.943C>T

1 paper

NM_006559.3

p.R302Splc

c.906-1G>A

1 paper

NM_006559.3

p.T317A

c.949A>G

3 papers

NM_006559.3

p.T317I

c.950C>T

1 paper

NM_006559.3

p.V319I

c.955G>A

1 paper

NM_006559.3

p.G321E

c.962G>A