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.L539_L540Fs

c.1617_1618delinsAAGFs

Surrounding Variants

1 paper

NM_000179.3

p.L540fs

c.1618_1619fs

1 paper

NM_000179.3

p.L540V

c.1618C>G

1 paper

NM_000179.3

p.L540delFs

c.1619_1620delTT

1 paper

NM_000179.3

p.L540fs

c.1618_1619fs

3 papers

NM_000179.3

p.L539F

c.1615C>T

3 papers

NM_000179.3

p.Y538*

c.1614T>A

3 papers

NM_000179.3

p.Y538*

c.1614T>G

3 papers

NM_000179.3

p.Y538_L539delins

c.1614_1615delinsAG

2 papers

NM_000179.3

p.Y538_L539Fs

c.1614_1615delinsGFs

10 papers

NM_000179.3

p.S541R

c.1621A>C

5 papers

NM_000179.3

p.Y538S

c.1613A>C

6 papers

NM_000179.3

p.S541G

c.1621A>G