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

3 papers

NM_130446.4

p.L24R

c.71T>G

Surrounding Variants

2 papers

NM_130446.4

p.P23H

c.68C>A

1 paper

NM_130446.4

p.A25E

c.74C>A

1 paper

NM_130446.4

p.L24_A25delFs

c.71_75del5

1 paper

NM_130446.4

p.S27P

c.79T>C

1 paper

NM_130446.4

p.E21Q

c.61G>C

1 paper

NM_130446.4

p.L20*

c.59T>A

1 paper

NM_130446.4

p.D29N

c.85G>A

1 paper

NM_130446.4

p.S19T

c.56G>C

1 paper

NM_130446.4

p.T28_D29delFs

c.84_85delCT

2 papers

NM_130446.4

p.K18*

c.52A>T

1 paper

NM_130446.4

p.K18Q

c.52A>C

1 paper

NM_130446.4

p.E17D

c.51G>T