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.A175G

c.524C>G

Surrounding Variants

2 papers

NM_000179.3

p.A175V

c.524C>T

2 papers

NM_000179.3

p.A175T

c.523G>A

2 papers

NM_000179.3

p.M176V

c.526A>G

1 paper

NM_000179.3

p.R174K

c.521G>A

1 paper

NM_000179.3

p.R174*

c.520A>T

1 paper

NM_000179.3

p.M176I

c.528G>A

1 paper

NM_000179.3

p.M176I

c.528G>C

1 paper

NM_000179.3

p.M176I

c.528G>T

1 paper

NM_000179.3

p.Q177_A182del0

c.529_546del18

1 paper

NM_000179.3

p.Q177_R178ins5

c.529_533ins15

2 papers

NM_000179.3

p.Q177*

c.529C>T

1 paper

NM_000179.3

p.Q177delFs

c.530_531delAA