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

2 papers

NM_130446.4

p.D73H

c.217G>C

Surrounding Variants

1 paper

NM_130446.4

p.D73N

c.217G>A

1 paper

NM_130446.4

p.D73A

c.218A>C

2 papers

NM_130446.4

p.D73E

c.219T>G

2 papers

NM_130446.4

p.D73E

c.219T>A

3 papers

NM_130446.4

p.T72R

c.215C>G

1 paper

NM_130446.4

p.T72P

c.214A>C

1 paper

NM_130446.4

p.V74G

c.221T>G

1 paper

NM_130446.4

p.V74D

c.221T>A

1 paper

NM_130446.4

p.L71R

c.212T>G

2 papers

NM_130446.4

p.L71P

c.212T>C

1 paper

NM_130446.4

p.L71Q

c.212T>A

1 paper

NM_130446.4

p.V74fs

c.220_221fs