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.E17G

c.50A>G

Surrounding Variants

1 paper

NM_130446.4

p.E17A

c.50A>C

1 paper

NM_130446.4

p.E17D

c.51G>T

1 paper

NM_130446.4

p.E17D

c.51G>C

1 paper

NM_130446.4

p.E17K

c.49G>A

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.V15A

c.44T>C

1 paper

NM_130446.4

p.S19T

c.56G>C

1 paper

NM_130446.4

p.D14E

c.42T>G

1 paper

NM_130446.4

p.D14E

c.42T>A

1 paper

NM_130446.4

p.L20*

c.59T>A

1 paper

NM_130446.4

p.D14A

c.41A>C