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.G326V

c.977G>T

Surrounding Variants

1 paper

NM_130446.4

p.T328M

c.983C>T

1 paper

NM_130446.4

p.T328K

c.983C>A

1 paper

NM_130446.4

p.E331K

c.991G>A

2 papers

NM_130446.4

p.R332W

c.994C>T

2 papers

NM_130446.4

p.S318F

c.953C>T

1 paper

NM_130446.4

p.Q317_S318insFs

c.951_952ins4

1 paper

NM_130446.4

p.E315D

c.945G>T

1 paper

NM_130446.4

p.E315D

c.945G>C

1 paper

NM_130446.4

p.V337G

c.1010T>G

1 paper

NM_130446.4

p.T338P

c.1012A>C

1 paper

NM_130446.4

p.H314N

c.940C>A

5 papers

NM_130446.4

p.M313I

c.939G>T