Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.D2785D

c.8355T>C

Surrounding Variants

1 paper

NM_000051.4

p.D2785G

c.8354A>G

2 papers

NM_000051.4

p.G2786S

c.8356G>A

5 papers

NM_000051.4

p.D2785N

c.8353G>A

2 papers

NM_000051.4

p.D2785Y

c.8353G>T

1 paper

NM_000051.4

p.E2784G

c.8351A>G

1 paper

NM_000051.4

p.A2787T

c.8359G>A

2 papers

NM_000051.4

p.A2787V

c.8360C>T

1 paper

NM_000051.4

p.N2783N

c.8349T>C

1 paper

NM_000051.4

p.N2783S

c.8348A>G

1 paper

NM_000051.4

p.H2788P

c.8363A>C

2 papers

NM_000051.4

p.H2788R

c.8363A>G

2 papers

NM_000051.4

p.H2788Q

c.8364T>A