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

1 paper

NM_000179.3

p.M1_S2insFs

c.3_4insA

Surrounding Variants

10 papers

NM_000179.3

p.M1I

c.3G>A

4 papers

NM_000179.3

p.M1I

c.3G>C

1 paper

NM_000179.3

p.M1_S2insFs

c.3_4ins5

8 papers

NM_000179.3

p.S2insFs

c.4dupT

2 papers

NM_000179.3

p.M1_S2insFs

c.3_4insTT

10 papers

NM_000179.3

p.M1I

c.3G>T

3 papers

NM_000179.3

p.S2delFs

c.4delT

2 papers

NM_000179.3

p.M1K

c.2T>A

9 papers

NM_000179.3

p.M1T

c.2T>C

4 papers

NM_000179.3

p.M1R

c.2T>G

1 paper

NM_000179.3

p.S2A

c.4T>G

1 paper

NM_000179.3

p.M1Fs

c.3delinsAGFs