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

3 papers

NM_000179.3

p.K1045fs

c.3133_3134fs

Surrounding Variants

1 paper

NM_000179.3

p.K1045E

c.3133A>G

1 paper

NM_000179.3

p.K1045_W1047delFs

c.3134_3140del7

1 paper

NM_000179.3

p.K1045M

c.3134A>T

5 papers

NM_000179.3

p.Y1044*

c.3132C>A

5 papers

NM_000179.3

p.Y1044*

c.3132C>G

1 paper

NM_000179.3

p.Y1044S

c.3131A>C

2 papers

NM_000179.3

p.D1046N

c.3136G>A

1 paper

NM_000179.3

p.D1046fs

c.3136_3137fs

1 paper

NM_000179.3

p.D1046Y

c.3136G>T

1 paper

NM_000179.3

p.D1046G

c.3137A>G

1 paper

NM_000179.3

p.Y1044_K1045del2

c.3130_3134del6

1 paper

NM_000179.3

p.W1047delFs

c.3139delT