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.E708delFs

c.2122delG

Surrounding Variants

3 papers

NM_000051.4

p.E708K

c.2122G>A

2 papers

NM_000051.4

p.E708*

c.2122G>T

1 paper

NM_000051.4

p.S707T

c.2119T>A

131 papers

NM_000051.4

p.S707P

c.2119T>C

1 paper

NM_000051.4

p.S707_E708ins16

c.2119_2123ins48

2 papers

NM_000051.4

p.S706S

c.2118A>G

1 paper

NM_000051.4

p.E708D

c.2124G>C

1 paper

NM_000051.4

p.E708D

c.2124G>T

10 papers

NM_000051.4

p.S706L

c.2117C>T

6 papers

NM_000051.4

p.E708_I709Splc

c.2124+1G>A

1 paper

NM_000051.4

p.E708_I709Splc

c.2124+1G>T

1 paper

NM_000051.4

p.S706P

c.2116T>C