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.E1277K

c.3829G>A

Surrounding Variants

1 paper

NM_000051.4

p.E1277*

c.3829G>T

1 paper

NM_000051.4

p.D1278delFs

c.3832delG

3 papers

NM_000051.4

p.E1277D

c.3831G>C

3 papers

NM_000051.4

p.E1277D

c.3831G>T

1 paper

NM_000051.4

p.Q1276E

c.3826C>G

6 papers

NM_000051.4

p.Q1276*

c.3826C>T

4 papers

NM_000051.4

p.D1278N

c.3832G>A

1 paper

NM_000051.4

p.D1278fs

c.3832_3833fs

2 papers

NM_000051.4

p.D1278E

c.3834C>A

2 papers

NM_000051.4

p.D1278E

c.3834C>G

1 paper

NM_000051.4

p.I1275V

c.3823A>G

1 paper

NM_000051.4

p.I1275F

c.3823A>T