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.P38Q

c.113C>A

Surrounding Variants

1 paper

NM_006559.3

p.Q37L

c.110A>T

1 paper

NM_006559.3

p.P39L

c.116C>T

1 paper

NM_006559.3

p.L40L

c.118C>T

1 paper

NM_006559.3

p.P41S

c.121C>T

1 paper

NM_006559.3

p.H42insFs

c.125dupA

1 paper

NM_006559.3

p.P34L

c.101C>T

1 paper

NM_006559.3

p.P34_G47delFs

c.102_139del38

1 paper

NM_006559.3

p.P34S

c.100C>T

1 paper

NM_006559.3

p.T33A

c.97A>G

1 paper

NM_006559.3

p.Q32R

c.95A>G

1 paper

NM_006559.3

p.R31S

c.91C>A

1 paper

NM_006559.3

p.V30_R31insFs

c.90_91ins4