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.G102D

c.305G>A

Surrounding Variants

1 paper

NM_000179.3

p.G102insFs

c.306dupT

2 papers

NM_000179.3

p.G102S

c.304G>A

1 paper

NM_000179.3

p.Y103fs

c.307_308fs

1 paper

NM_000179.3

p.P104delFs

c.310delC

1 paper

NM_000179.3

p.Y103*

c.309C>A

2 papers

NM_000179.3

p.E101K

c.301G>A

1 paper

NM_000179.3

p.E101*

c.301G>T

1 paper

NM_000179.3

p.E101_G102delFs

c.302_306del5

1 paper

NM_000179.3

p.P104S

c.310C>T

1 paper

NM_000179.3

p.M100T

c.299T>C

1 paper

NM_000179.3

p.E101delFs

c.301delG

3 papers

NM_000179.3

p.W105delFs

c.313delT