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

6 papers

NM_000179.3

p.K301N

c.903G>T

Surrounding Variants

3 papers

NM_000179.3

p.K301N

c.903G>C

1 paper

NM_000179.3

p.R302_G306del5

c.904_917del15

1 paper

NM_000179.3

p.R302fs

c.904_905fs

1 paper

NM_000179.3

p.K301M

c.902A>T

4 papers

NM_000179.3

p.K301fs

c.901_902fs

1 paper

NM_000179.3

p.K301*

c.901A>T

8 papers

NM_000179.3

p.K301fs

c.901_902fs

2 papers

NM_000179.3

p.R302K

c.905G>A

3 papers

NM_000179.3

p.R302T

c.905G>C

1 paper

NM_000179.3

p.R302I

c.905G>T

1 paper

NM_000179.3

p.R302_M303delFs

c.906_907delAA

2 papers

NM_000179.3

p.R300_K301insFs

c.900_901insTC