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

5 papers

NM_130446.4

p.F83L

c.249C>A

Surrounding Variants

5 papers

NM_130446.4

p.F83L

c.249C>G

2 papers

NM_130446.4

p.F83fs

c.247_248fs

1 paper

NM_130446.4

p.S84A

c.250T>G

2 papers

NM_130446.4

p.F83S

c.248T>C

1 paper

NM_130446.4

p.S84T

c.250T>A

1 paper

NM_130446.4

p.F83delFs

c.249delG

2 papers

NM_130446.4

p.F83V

c.247T>G

5 papers

NM_130446.4

p.F83L

c.247T>C

2 papers

NM_130446.4

p.F83I

c.247T>A

1 paper

NM_130446.4

p.S84F

c.251C>T

2 papers

NM_130446.4

p.E82D

c.246A>T

2 papers

NM_130446.4

p.E82D

c.246A>C