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

2 papers

NM_130446.4

p.T64S

c.191C>G

Surrounding Variants

2 papers

NM_130446.4

p.T64I

c.191C>T

2 papers

NM_130446.4

p.T64fs

c.190_191fs

2 papers

NM_130446.4

p.T64S

c.190A>T

2 papers

NM_130446.4

p.T64A

c.190A>G

1 paper

NM_130446.4

p.T64insFs

c.190_191insG

2 papers

NM_130446.4

p.L65V

c.193C>G

9 papers

NM_130446.4

p.L65P

c.194T>C

1 paper

NM_130446.4

p.L65Q

c.194T>A

1 paper

NM_130446.4

p.E63*

c.187G>T

1 paper

NM_130446.4

p.E63K

c.187G>A

1 paper

NM_130446.4

p.R66*

c.196C>T

1 paper

NM_130446.4

p.R66G

c.196C>G