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

2 papers

NM_001350599.2

p.L85F

c.255A>C

Surrounding Variants

2 papers

NM_001350599.2

p.L85F

c.255A>T

1 paper

NM_001350599.2

p.H94L

c.281A>T

1 paper

NM_001350599.2

p.E68*

c.202G>T

1 paper

NM_001350599.2

p.N59S

c.176A>G

1 paper

NM_001350599.2

p.S43T

c.127T>A

1 paper

NM_001350599.2

p.C31F

c.92G>T

1 paper

NM_001350599.2

p.P27S

c.79C>T

1 paper

NM_001350599.2

p.L19L

c.55C>T

1 paper

NM_001350599.2

p.Q98L

c.293A>T

1 paper

NM_001350599.2

p.T105A

c.313A>G

1 paper

NM_001350599.2

p.G114Splc

c.340+1G>A

1 paper

NM_001350599.2

p.L119V

c.355C>G