Varaico: Literature-Extracted Genetic Variants

KLHL6

202 papers

RefSeq Summary

This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains...

Pfam Domains

BTBaa 62–169UCSCBTB/POZ domain

BACKaa 174–276UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 312–523UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 547–585UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 6

HGNC Alias Symbol

FLJ00029

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_130446.4

p.L90F

c.268C>T

Surrounding Variants

1 paper

NM_130446.4

p.L90fs

c.268_269fs

9 papers

NM_130446.4

p.L90V

c.268C>G

1 paper

NM_130446.4

p.V89delFs

c.267delC

1 paper

NM_130446.4

p.L90R

c.269T>G

2 papers

NM_130446.4

p.L90P

c.269T>C

2 papers

NM_130446.4

p.L90H

c.269T>A

1 paper

NM_130446.4

p.V89fs

c.265_266fs

1 paper

NM_130446.4

p.L90fs

c.268_269fs

1 paper

NM_130446.4

p.V89G

c.266T>G

1 paper

NM_130446.4

p.V89E

c.266T>A

2 papers

NM_130446.4

p.V89M

c.265G>A

6 papers

NM_130446.4

p.A91V

c.272C>T