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.G402A

c.1205G>C

Surrounding Variants

1 paper

NM_006559.3

p.H401N

c.1201C>A

1 paper

NM_006559.3

p.Q405_E409del5

c.1213_1226del15

1 paper

NM_006559.3

p.D398E

c.1194C>A

1 paper

NM_006559.3

p.D398E

c.1194C>G

1 paper

NM_006559.3

p.S407A

c.1219T>G

1 paper

NM_006559.3

p.Y397F

c.1190A>T

1 paper

NM_006559.3

p.S407F

c.1220C>T

1 paper

NM_006559.3

p.Y396*

c.1188T>A

1 paper

NM_006559.3

p.Y396*

c.1188T>G

1 paper

NM_006559.3

p.Y408_E409insFs

c.1224_1225insT

4 papers

NM_006559.3

p.E409K

c.1225G>A

1 paper

NM_006559.3

p.E409A

c.1226A>C