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

1 paper

NM_019117.5

p.P545T

c.1633C>A

Surrounding Variants

1 paper

NM_019117.5

p.P545S

c.1633C>T

1 paper

NM_019117.5

p.G547V

c.1640G>T

2 papers

NM_019117.5

p.R548*

c.1642C>T

1 paper

NM_019117.5

p.V540_E541del2

c.1618_1622del6

1 paper

NM_019117.5

p.G529C

c.1585G>T

1 paper

NM_019117.5

p.T562P

c.1684A>C

1 paper

NM_019117.5

p.A527V

c.1580C>T

1 paper

NM_019117.5

p.Y526delFs

c.1577delA

1 paper

NM_019117.5

p.V566D

c.1697T>A

1 paper

NM_019117.5

p.G523R

c.1567G>A

1 paper

NM_019117.5

p.G523R

c.1567G>C

1 paper

NM_019117.5

p.L521I

c.1561C>A