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.P107_C108delFs

c.321_322delTT

Surrounding Variants

1 paper

NM_000179.3

p.P107R

c.320C>G

1 paper

NM_000179.3

p.P107L

c.320C>T

1 paper

NM_000179.3

p.P107S

c.319C>T

2 papers

NM_000179.3

p.W106*

c.318G>A

1 paper

NM_000179.3

p.P107_H113delFs

c.319_338del20

1 paper

NM_000179.3

p.C108fs

c.322_323fs

2 papers

NM_000179.3

p.C108fs

c.322_323fs

3 papers

NM_000179.3

p.W106*

c.317G>A

1 paper

NM_000179.3

p.C108Y

c.323G>A

1 paper

NM_000179.3

p.L109V

c.325C>G

2 papers

NM_000179.3

p.L109L

c.325C>T

6 papers

NM_000179.3

p.W105*

c.315G>A