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.G39A

c.116G>C

Surrounding Variants

135 papers

NM_000179.3

p.G39E

c.116G>A

1 paper

NM_000179.3

p.G39Fs

c.116delinsCAFs

1 paper

NM_000179.3

p.G39V

c.116G>T

4 papers

NM_000179.3

p.G39R

c.115G>A

3 papers

NM_000179.3

p.G39R

c.115G>C

1 paper

NM_000179.3

p.G39G

c.117G>C

1 paper

NM_000179.3

p.G39fs

c.115_116fs

1 paper

NM_000179.3

p.G39_A40insGGC

c.115_119ins9

4 papers

NM_000179.3

p.G39W

c.115G>T

1 paper

NM_000179.3

p.A40P

c.118G>C

3 papers

NM_000179.3

p.A40fs

c.118_119fs

1 paper

NM_000179.3

p.A40S

c.118G>T