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.P1082P

c.3246G>C

Surrounding Variants

1 paper

NM_000179.3

p.P1082P

c.3246G>A

18 papers

NM_000179.3

p.P1082P

c.3246G>T

1 paper

NM_000179.3

p.P1082insFs

c.3245_3246insA

13 papers

NM_000179.3

p.P1082L

c.3245C>T

3 papers

NM_000179.3

p.E1083delFs

c.3247delG

1 paper

NM_000179.3

p.P1082_E1083Fs

c.3245_3247delinsTGATFs

1 paper

NM_000179.3

p.E1083K

c.3247G>A

2 papers

NM_000179.3

p.E1083fs

c.3247_3248fs

13 papers

NM_000179.3

p.P1082S

c.3244C>T

1 paper

NM_000179.3

p.L1081F

c.3243G>C

1 paper

NM_000179.3

p.L1081F

c.3243G>T

1 paper

NM_000179.3

p.D1084Y

c.3250G>T