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

1 paper

NM_130446.4

p.K46fs

c.136_137fs

Surrounding Variants

1 paper

NM_130446.4

p.V47G

c.140T>G

1 paper

NM_130446.4

p.E45fs

c.133_134fs

1 paper

NM_130446.4

p.K48*

c.142A>T

1 paper

NM_130446.4

p.F49V

c.145T>G

2 papers

NM_130446.4

p.F49L

c.145T>C

1 paper

NM_130446.4

p.F49S

c.146T>C

2 papers

NM_130446.4

p.F49L

c.147T>G

2 papers

NM_130446.4

p.F49L

c.147T>A

1 paper

NM_130446.4

p.L42F

c.126A>T

1 paper

NM_130446.4

p.L42F

c.126A>C

2 papers

NM_130446.4

p.L42*

c.125T>G

1 paper

NM_130446.4

p.L42*

c.125T>A