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.I1099delFs

c.3296_3297delTT

Surrounding Variants

2 papers

NM_000179.3

p.C1098*

c.3294C>A

1 paper

NM_000179.3

p.I1099N

c.3296T>A

1 paper

NM_000179.3

p.C1098Y

c.3293G>A

1 paper

NM_000179.3

p.T1100K

c.3299C>A

6 papers

NM_000179.3

p.T1100R

c.3299C>G

17 papers

NM_000179.3

p.T1100M

c.3299C>T

1 paper

NM_000179.3

p.P1097L

c.3290C>T

4 papers

NM_000179.3

p.T1100T

c.3300G>A

1 paper

NM_000179.3

p.P1097A

c.3289C>G

1 paper

NM_000179.3

p.H1096R

c.3287A>G

1 paper

NM_000179.3

p.K1101K

c.3303G>A

3 papers

NM_000179.3

p.K1101N

c.3303G>C