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.D1346N

c.4036G>A

Surrounding Variants

1 paper

NM_000179.3

p.V1345_D1346insFs

c.4035_4036ins23

1 paper

NM_000179.3

p.V1345delFs

c.4035delA

1 paper

NM_000179.3

p.V1345fs

c.4033_4034fs

2 papers

NM_000179.3

p.S1343*

c.4028C>A

2 papers

NM_000179.3

p.S1343*

c.4028C>G

1 paper

NM_000179.3

p.S1343_T1344ins0

c.4029_4031dupAAC

1 paper

NM_000179.3

p.V1350_H1351del2

c.4048_4052del6

1 paper

NM_000179.3

p.R1342fs

c.4024_4025fs

1 paper

NM_000179.3

p.H1351fs

c.4051_4052fs

1 paper

NM_000179.3

p.H1351D

c.4051C>G

1 paper

NM_000179.3

p.R1342delFs

c.4024delA

2 papers

NM_000179.3

p.H1351_*1361insFs

c.4053_4081dup29