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.D75N

c.223G>A

Surrounding Variants

1 paper

NM_006559.3

p.P74P

c.222C>T

1 paper

NM_006559.3

p.D75_A76del2

c.223_227del6

1 paper

NM_006559.3

p.P74A

c.220C>G

1 paper

NM_006559.3

p.A76_T77delFs

c.228_229delGA

1 paper

NM_006559.3

p.S70L

c.209C>T

1 paper

NM_006559.3

p.P81S

c.241C>T

3 papers

NM_006559.3

p.P68R

c.203C>G

1 paper

NM_006559.3

p.P68L

c.203C>T

1 paper

NM_006559.3

p.P68_T72delFs

c.204_214del11

1 paper

NM_006559.3

p.P68A

c.202C>G

2 papers

NM_006559.3

p.P68S

c.202C>T

1 paper

NM_006559.3

p.A82S

c.244G>T