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.F172L

c.514T>C

Surrounding Variants

1 paper

NM_006559.3

p.F172L

c.516T>A

1 paper

NM_006559.3

p.F172L

c.516T>G

1 paper

NM_006559.3

p.N171fs

c.511_512fs

1 paper

NM_006559.3

p.N171D

c.511A>G

1 paper

NM_006559.3

p.G174R

c.520G>A

2 papers

NM_006559.3

p.G178R

c.532G>A

2 papers

NM_006559.3

p.G178R

c.532G>C

7 papers

NM_006559.3

p.G178E

c.533G>A

1 paper

NM_006559.3

p.P179A

c.535C>G

1 paper

NM_006559.3

p.Q180*

c.538C>T

1 paper

NM_006559.3

p.T183I

c.548C>T

1 paper

NM_006559.3

p.I184delFs

c.551delT