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.A9T

c.25G>A

Surrounding Variants

1 paper

NM_130446.4

p.A9G

c.26C>G

1 paper

NM_130446.4

p.Q6*

c.16C>T

1 paper

NM_130446.4

p.M12T

c.35T>C

2 papers

NM_130446.4

p.G5E

c.14G>A

2 papers

NM_130446.4

p.D14N

c.40G>A

1 paper

NM_130446.4

p.M12_D14Fs

c.35_40delinsGGGGTTAFs

1 paper

NM_130446.4

p.D14A

c.41A>C

1 paper

NM_130446.4

p.D14E

c.42T>G

1 paper

NM_130446.4

p.M3R

c.8T>G

1 paper

NM_130446.4

p.D14E

c.42T>A

1 paper

NM_130446.4

p.V15A

c.44T>C

1 paper

NM_130446.4

p.M1T

c.2T>C