Varaico: Literature-Extracted Genetic Variants

KLHL4

70 papers

RefSeq Summary

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding doma...

Pfam Domains

BTBaa 172–279UCSCBTB/POZ domain

BACKaa 284–385UCSCBTB And C-terminal Kelch

Beta-prop_ATRN-LZTR1aa 431–687UCSCAttractin/LZTR1 beta-propeller

Gene Aliases

HGNC Name

kelch like family member 4

HGNC Alias Symbols

KIAA1687; DKELCHL; KHL4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_019117.5

p.A472T

c.1414G>A

Surrounding Variants

1 paper

NM_019117.5

p.K477N

c.1431G>C

1 paper

NM_019117.5

p.K477N

c.1431G>T

3 papers

NM_019117.5

p.V481M

c.1441G>A

1 paper

NM_019117.5

p.V481A

c.1442T>C

1 paper

NM_019117.5

p.G500C

c.1498G>T

1 paper

NM_019117.5

p.H512Q

c.1536T>A

1 paper

NM_019117.5

p.H512Q

c.1536T>G

1 paper

NM_019117.5

p.A519V

c.1556C>T

1 paper

NM_019117.5

p.L521I

c.1561C>A

3 papers

NM_019117.5

p.L521F

c.1561C>T

1 paper

NM_019117.5

p.G523R

c.1567G>A

1 paper

NM_019117.5

p.G523R

c.1567G>C