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.N910delFs

c.2728_2729delAA

Surrounding Variants

1 paper

NM_000179.3

p.N910insFs

c.2729_2730insA

1 paper

NM_000179.3

p.L909*

c.2726T>A

2 papers

NM_000179.3

p.L909S

c.2726T>C

1 paper

NM_000179.3

p.L909insFs

c.2727dupG

1 paper

NM_000179.3

p.L909fs

c.2725_2726fs

1 paper

NM_000179.3

p.L909insFs

c.2726dupT

1 paper

NM_000179.3

p.L909_N910del2

c.2725_2729del6

75 papers

NM_000179.3

p.R911*

c.2731C>T

1 paper

NM_000179.3

p.R911fs

c.2731_2732fs

3 papers

NM_000179.3

p.R911Q

c.2732G>A

2 papers

NM_000179.3

p.E908K

c.2722G>A

7 papers

NM_000179.3

p.E908*

c.2722G>T