Varaico: Literature-Extracted Genetic Variants

MMS22L

81 papers

RefSeq Summary

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replic...

Pfam Domains

MMS22L_Naa 26–731UCSCS-phase genomic integrity recombination mediator, N-terminal

MMS22L_Caa 851–1227UCSCS-phase genomic integrity recombination mediator, C-terminal

Gene Aliases

HGNC Name

MMS22 like, DNA repair protein

HGNC Previous Symbol

C6orf167

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001350599.2

p.T564A

c.1690A>G

Surrounding Variants

5 papers

NM_001350599.2

p.T564M

c.1691C>T

1 paper

NM_001350599.2

p.S549_H550del1

c.1646_1648delGAC

1 paper

NM_001350599.2

p.L578F

c.1732C>T

1 paper

NM_001350599.2

p.A548S

c.1642G>T

1 paper

NM_001350599.2

p.K584*

c.1750A>T

1 paper

NM_001350599.2

p.L586R

c.1757T>G

1 paper

NM_001350599.2

p.A539T

c.1615G>A

1 paper

NM_001350599.2

p.L534P

c.1601T>C

1 paper

NM_001350599.2

p.N530S

c.1589A>G

1 paper

NM_001350599.2

p.S609S

c.1827T>C

1 paper

NM_001350599.2

p.W621*

c.1862G>A

1 paper

NM_001350599.2

p.W621*

c.1863G>A