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

10 papers

NM_000179.3

p.V1312_I1313insFs

c.3934_3937dup4

Surrounding Variants

1 paper

NM_000179.3

p.V1312insFs

c.3934_3935ins4

2 papers

NM_000179.3

p.V1312_R1318insFs

c.3935_3953dup19

2 papers

NM_000179.3

p.E1311D

c.3933A>C

2 papers

NM_000179.3

p.E1311D

c.3933A>T

1 paper

NM_000179.3

p.E1311_V1312Fs

c.3933_3935delinsCAFs

1 paper

NM_000179.3

p.E1311_V1312insFs

c.3932_3935dup4

1 paper

NM_000179.3

p.E1311fs

c.3931_3932fs

1 paper

NM_000179.3

p.E1311delFs

c.3932_3933delAA

4 papers

NM_000179.3

p.E1310D

c.3930G>C

1 paper

NM_000179.3

p.E1311_V1312ins0

c.3932_3934dupAAG

1 paper

NM_000179.3

p.V1312_R1318insFs

c.3935_3954dup20

4 papers

NM_000179.3

p.E1310D

c.3930G>T