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

2 papers

NM_006559.3

p.G54delFs

c.161delG

Surrounding Variants

2 papers

NM_006559.3

p.R52S

c.154C>A

1 paper

NM_006559.3

p.R52C

c.154C>T

1 paper

NM_006559.3

p.G54_A55del1

c.161_163delGCG

1 paper

NM_006559.3

p.G54fs

c.160_161fs

1 paper

NM_006559.3

p.G54D

c.161G>A

1 paper

NM_006559.3

p.S51T

c.151T>A

1 paper

NM_006559.3

p.S51P

c.151T>C

2 papers

NM_006559.3

p.S51A

c.151T>G

1 paper

NM_006559.3

p.A55V

c.164C>T

1 paper

NM_006559.3

p.G50R

c.148G>C

1 paper

NM_006559.3

p.S58A

c.172T>G

3 papers

NM_006559.3

p.S58L

c.173C>T