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

1–12 of 415 variants

11 papers

NM_130446.4

p.L90F

c.268C>T

9 papers

NM_130446.4

p.L65P

c.194T>C

9 papers

NM_130446.4

p.L90V

c.268C>G

6 papers

NM_130446.4

p.A91V

c.272C>T

5 papers

NM_130446.4

p.Q81*

c.241C>T

5 papers

NM_130446.4

p.F83L

c.247T>C

5 papers

NM_130446.4

p.F83L

c.249C>G

5 papers

NM_130446.4

p.F83L

c.249C>A

5 papers

NM_130446.4

p.F97L

c.291C>A

5 papers

NM_130446.4

p.M313I

c.939G>T

5 papers

NM_130446.4

p.M313I

c.939G>C

5 papers

NM_130446.4

p.M313I

c.939G>A