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

22 papers

NM_006559.3

p.P301S

c.901C>T

Surrounding Variants

21 papers

NM_006559.3

p.P301L

c.902C>T

1 paper

NM_006559.3

p.P298S

c.892C>T

1 paper

NM_006559.3

p.P297A

c.889C>G

2 papers

NM_006559.3

p.P297S

c.889C>T

3 papers

NM_006559.3

p.P296L

c.887C>T

1 paper

NM_006559.3

p.P295A

c.883C>G

1 paper

NM_006559.3

p.A293T

c.877G>A

1 paper

NM_006559.3

p.G292insFs

c.875_876insT

1 paper

NM_006559.3

p.G290A

c.869G>C

1 paper

NM_001271878.2

p.V249V

c.747G>A

1 paper

NM_006559.3

p.V288L

c.862G>C

1 paper

NM_006559.3

p.V286A

c.857T>C