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.F891L

c.2673C>G

Surrounding Variants

1 paper

NM_001350599.2

p.F891L

c.2673C>A

1 paper

NM_001350599.2

p.F891L

c.2671T>C

1 paper

NM_001350599.2

p.A887fs

c.2659_2660fs

1 paper

NM_001350599.2

p.K886delFs

c.2658delT

4 papers

NM_001350599.2

p.V875A

c.2624T>C

1 paper

NM_001350599.2

p.E843K

c.2527G>A

1 paper

NM_001350599.2

p.G831W

c.2491G>T

1 paper

NM_001350599.2

p.Y825F

c.2474A>T

1 paper

NM_001350599.2

p.S802F

c.2405C>T

1 paper

NM_001350599.2

p.L801R

c.2402T>G

1 paper

NM_001350599.2

p.Q782H

c.2346A>T

1 paper

NM_001350599.2

p.Q782H

c.2346A>C