Varaico: Literature-Extracted Genetic Variants

RCBTB2

21 papers

RefSeq Summary

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor...

Pfam Domains

BTBaa 110–213UCSCBTB/POZ domain

RCC1aa 122–172UCSCRegulator of chromosome condensation (RCC1) repeat

WD40_RLDaa 141–348UCSCRCC1-like domain

RCC1aa 175–225UCSCRegulator of chromosome condensation (RCC1) repeat

BACKaa 218–271UCSCBTB And C-terminal Kelch

RCC1aa 228–277UCSCRegulator of chromosome condensation (RCC1) repeat

Gene Aliases

HGNC Name

RCC1 and BTB domain containing protein 2

HGNC Previous Symbol

CHC1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001268.4

p.L167I

c.499C>A

Surrounding Variants

1 paper

NM_001268.4

p.N137D

c.409A>G

1 paper

NM_001268.4

p.W176C

c.528G>T

1 paper

NM_001268.4

p.W176C

c.528G>C

1 paper

NM_001268.4

p.E225*

c.673G>T

1 paper

NM_001268.4

p.A267T

c.799G>A

1 paper

NM_001268.4

p.I100delFs

c.298delT

1 paper

NM_001268.4

p.N64N

c.192T>C

1 paper

NM_001268.4

p.K14_P15Splc

c.42+59T>C

1 paper

NM_001268.4

p.G10R

c.28G>C

1 paper

NM_001268.4

p.G10R

c.28G>A

1 paper

NM_001268.4

p.V342M

c.1024G>A

1 paper

NM_001268.4

p.V365I

c.1093G>A