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

2 papers

NM_000179.3

p.P1086S

c.3256C>T

Surrounding Variants

1 paper

NM_000179.3

p.P1086T

c.3256C>A

2 papers

NM_000179.3

p.P1086fs

c.3256_3257fs

2 papers

NM_000179.3

p.P1086A

c.3256C>G

1 paper

NM_000179.3

p.P1086ins1

c.3256_3257insATC

2 papers

NM_000179.3

p.P1086R

c.3257C>G

1 paper

NM_000179.3

p.T1085T

c.3255C>G

1 paper

NM_000179.3

p.P1086L

c.3257C>T

1 paper

NM_000179.3

p.T1085_P1086Fs

c.3255_3256delinsTFs

1 paper

NM_000179.3

p.T1085I

c.3254C>T

1 paper

NM_000179.3

p.T1085Fs

c.3254_3255delinsAFs

187 papers

NM_000179.3

p.P1087insFs

c.3261dupC

11 papers

NM_000179.3

p.P1087insFs

c.3260_3261dupCC