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

1–12 of 100 variants

3 papers

NM_019117.5

p.V481M

c.1441G>A

3 papers

NM_019117.5

p.L521F

c.1561C>T

2 papers

NM_019117.5

p.R57W

c.169C>T

2 papers

NM_019117.5

p.R57Q

c.170G>A

2 papers

NM_019117.5

p.P281H

c.842C>A

2 papers

NM_019117.5

p.I287V

c.859A>G

2 papers

NM_019117.5

p.A472T

c.1414G>A

2 papers

NM_019117.5

p.R548*

c.1642C>T

1 paper

NM_019117.5

p.R20G

c.58A>G

1 paper

NM_019117.5

p.S23I

c.68G>T

1 paper

NM_019117.5

p.G40*

c.118G>T

1 paper

NM_019117.5

p.G40E

c.119G>A