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.V398fs

c.1192_1193fs

Surrounding Variants

1 paper

NM_000179.3

p.V398M

c.1192G>A

1 paper

NM_000179.3

p.V398L

c.1192G>C

1 paper

NM_000179.3

p.V398L

c.1192G>T

1 paper

NM_000179.3

p.V398fs

c.1192_1193fs

9 papers

NM_000179.3

p.V398E

c.1193T>A

1 paper

NM_000179.3

p.V398delFs

c.1192delG

7 papers

NM_000179.3

p.Y397C

c.1190A>G

1 paper

NM_000179.3

p.Y397F

c.1190A>T

1 paper

NM_000179.3

p.P399_F402del4

c.1195_1205del12

1 paper

NM_000179.3

p.P399S

c.1195C>T

6 papers

NM_000179.3

p.Y397fs

c.1189_1190fs

5 papers

NM_000179.3

p.Y397fs

c.1189_1190fs