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

1–12 of 326 variants

22 papers

NM_006559.3

p.P301S

c.901C>T

21 papers

NM_006559.3

p.P301L

c.902C>T

11 papers

NM_006559.3

p.V229F

c.685G>T

9 papers

NM_006559.3

p.G351A

c.1052G>C

7 papers

NM_006559.3

p.G178E

c.533G>A

6 papers

NM_006559.3

p.I184N

c.551T>A

5 papers

NM_006559.3

p.P116P

c.348G>C

4 papers

NM_006559.3

p.P88L

c.263C>T

4 papers

NM_006559.3

p.M154V

c.460A>G

4 papers

NM_006559.3

p.E409K

c.1225G>A

3 papers

NM_006559.3

p.R3H

c.8G>A

3 papers

NM_006559.3

p.S58L

c.173C>T