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

3 papers

NM_000179.3

p.W105delFs

c.313delT

Surrounding Variants

2 papers

NM_000179.3

p.W105fs

c.313_314fs

1 paper

NM_000179.3

p.P104S

c.310C>T

6 papers

NM_000179.3

p.W105*

c.314G>A

1 paper

NM_000179.3

p.Y103*

c.309C>A

6 papers

NM_000179.3

p.W105*

c.315G>A

1 paper

NM_000179.3

p.W105C

c.315G>C

1 paper

NM_000179.3

p.W106insFs

c.316dupT

1 paper

NM_000179.3

p.W105C

c.315G>T

1 paper

NM_000179.3

p.P104delFs

c.310delC

3 papers

NM_000179.3

p.W106*

c.317G>A

1 paper

NM_000179.3

p.Y103fs

c.307_308fs

2 papers

NM_000179.3

p.W106*

c.318G>A