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.Y538*

c.1614T>G

Surrounding Variants

3 papers

NM_000179.3

p.Y538*

c.1614T>A

3 papers

NM_000179.3

p.Y538_L539delins

c.1614_1615delinsAG

2 papers

NM_000179.3

p.Y538_L539Fs

c.1614_1615delinsGFs

5 papers

NM_000179.3

p.Y538S

c.1613A>C

2 papers

NM_000179.3

p.Y538C

c.1613A>G

6 papers

NM_000179.3

p.L540del1

c.1618_1619delCTT

3 papers

NM_000179.3

p.L539F

c.1615C>T

1 paper

NM_000179.3

p.Y538fs

c.1612_1613fs

1 paper

NM_000179.3

p.Y538fs

c.1612_1613fs

3 papers

NM_000179.3

p.Y538insFs

c.1612dupT

1 paper

NM_000179.3

p.Y538_L539delFs

c.1613_1616del4

1 paper

NM_000179.3

p.L539_L540Fs

c.1617_1618delinsAAGFs