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.L1089F

c.3267A>C

Surrounding Variants

1 paper

NM_000179.3

p.L1089F

c.3267A>T

1 paper

NM_000179.3

p.E1090_L1091delFs

c.3268_3272del5

2 papers

NM_000179.3

p.E1090K

c.3268G>A

1 paper

NM_000179.3

p.E1090_L1091ins0

c.3269_3271dupAGC

4 papers

NM_000179.3

p.E1090fs

c.3268_3269fs

1 paper

NM_000179.3

p.L1089S

c.3266T>C

1 paper

NM_000179.3

p.L1089L

c.3265T>C

3 papers

NM_000179.3

p.L1091insFs

c.3273dupT

2 papers

NM_000179.3

p.F1088S

c.3263T>C

4 papers

NM_000179.3

p.E1090_K1092delFs

c.3268_3274del7

1 paper

NM_000179.3

p.F1088insFs

c.3262_3263insC

110 papers

NM_000179.3

p.F1088fs

c.3262_3263fs