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

2 papers

NM_000179.3

p.I855delFs

c.2565delT

Surrounding Variants

1 paper

NM_000179.3

p.I855fs

c.2563_2564fs

1 paper

NM_000179.3

p.I855F

c.2563A>T

1 paper

NM_000179.3

p.K854K

c.2562G>A

2 papers

NM_000179.3

p.K854N

c.2562G>C

2 papers

NM_000179.3

p.K854N

c.2562G>T

1 paper

NM_000179.3

p.I855_F858del4

c.2563_2573del12

36 papers

NM_000179.3

p.K854M

c.2561A>T

NM_001281492.2

p.K724M

c.2171A>T

6 papers

NM_000179.3

p.D857_F858delFs

c.2569_2572del4

1 paper

NM_000179.3

p.I856fs

c.2566_2567fs

1 paper

NM_000179.3

p.D857_F858del0

c.2569_2574del6

1 paper

NM_000179.3

p.K853K

c.2559G>A

1 paper

NM_000179.3

p.I856Fs

c.2567delinsGCFs