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

1–12 of 90 variants

5 papers

NM_001350599.2

p.T564M

c.1691C>T

4 papers

NM_001350599.2

p.V875A

c.2624T>C

2 papers

NM_001350599.2

p.L85F

c.255A>T

2 papers

NM_001350599.2

p.L85F

c.255A>C

2 papers

NM_001350599.2

p.S437F

c.1310C>T

2 papers

NM_001350599.2

p.F722fs

c.2164_2165fs

2 papers

NM_001350599.2

p.F722_S723delFs

c.2164_2168del5

1 paper

NM_001350599.2

p.L19L

c.55C>T

1 paper

NM_001350599.2

p.P27S

c.79C>T

1 paper

NM_001350599.2

p.C31F

c.92G>T

1 paper

NM_001350599.2

p.S43T

c.127T>A

1 paper

NM_001350599.2

p.N59S

c.176A>G