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.E1120_E1121delFs

c.3359_3363del5

Surrounding Variants

1 paper

NM_000179.3

p.E1119G

c.3356A>G

1 paper

NM_000179.3

p.E1119_E1120delFs

c.3357_3358delAG

1 paper

NM_000179.3

p.E1119fs

c.3355_3356fs

2 papers

NM_000179.3

p.E1119*

c.3355G>T

1 paper

NM_000179.3

p.E1119fs

c.3355_3356fs

1 paper

NM_000179.3

p.E1118E

c.3354G>A

1 paper

NM_000179.3

p.E1120K

c.3358G>A

1 paper

NM_000179.3

p.E1118*

c.3352G>T

2 papers

NM_000179.3

p.E1121K

c.3361G>A

1 paper

NM_000179.3

p.E1121_Q1122ins5

c.3361_3365ins15

1 paper

NM_000179.3

p.E1121*

c.3361G>T

1 paper

NM_000179.3

p.C1117S

c.3350G>C