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

2 papers

NM_000179.3

p.P38L

c.113C>T

Surrounding Variants

1 paper

NM_000179.3

p.P38_G39insG

c.112_116ins3

2 papers

NM_000179.3

p.P38S

c.112C>T

1 paper

NM_000179.3

p.P38fs

c.112_113fs

1 paper

NM_000179.3

p.P38_G39delFs

c.113_116del4

1 paper

NM_000179.3

p.A37A

c.111C>T

4 papers

NM_000179.3

p.G39R

c.115G>A

3 papers

NM_000179.3

p.G39R

c.115G>C

1 paper

NM_000179.3

p.G39fs

c.115_116fs

1 paper

NM_000179.3

p.G39_A40insGGC

c.115_119ins9

4 papers

NM_000179.3

p.G39W

c.115G>T

2 papers

NM_000179.3

p.A37V

c.110C>T

1 paper

NM_000179.3

p.P38_P42delFs

c.112_124del13