Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_000179.3

p.G153Splc

c.458-1G>A

Surrounding Variants

1 paper

NM_000179.3

p.S154insFs

c.460dupT

1 paper

NM_000179.3

p.G153fs

c.457_458fs

2 papers

NM_000179.3

p.S154fs

c.460_461fs

2 papers

NM_000179.3

p.S154*

c.461C>A

1 paper

NM_000179.3

p.S154*

c.461C>G

1 paper

NM_000179.3

p.S154L

c.461C>T

1 paper

NM_000179.3

p.S154S

c.462A>C

3 papers

NM_000179.3

p.K155E

c.463A>G

2 papers

NM_000179.3

p.K155N

c.465A>T

1 paper

NM_000179.3

p.S156fs

c.466_467fs

27 papers

NM_000179.3

p.S156*

c.467C>A

1 paper

NM_000179.3

p.S156insFs

c.467_468insT