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.G294G

c.882A>G

Surrounding Variants

1 paper

NM_000051.4

p.G294G

c.882A>T

1 paper

NM_000051.4

p.G294E

c.881G>A

1 paper

NM_000051.4

p.G294A

c.881G>C

1 paper

NM_000051.4

p.A295P

c.883G>C

2 papers

NM_000051.4

p.G294V

c.881G>T

1 paper

NM_000051.4

p.A295D

c.884C>A

2 papers

NM_000051.4

p.A295V

c.884C>T

1 paper

NM_000051.4

p.A295_T297delFs

c.885_889del5

2 papers

NM_000051.4

p.G294R

c.880G>C

1 paper

NM_000051.4

p.K293K

c.879A>G

1 paper

NM_000051.4

p.K293_G294Fs

c.879_880delinsAFs

1 paper

NM_000051.4

p.A295A

c.885C>A