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

2 papers

NM_000051.4

p.I2998T

c.8993T>C

Surrounding Variants

5 papers

NM_000051.4

p.I2998S

c.8993T>G

1 paper

NM_000051.4

p.I2998V

c.8992A>G

1 paper

NM_000051.4

p.D2999H

c.8995G>C

1 paper

NM_000051.4

p.D2999V

c.8996A>T

1 paper

NM_000051.4

p.D2997N

c.8989G>A

1 paper

NM_000051.4

p.Q3000E

c.8998C>G

4 papers

NM_000051.4

p.Q3000*

c.8998C>T

4 papers

NM_000051.4

p.S3001delFs

c.9001_9002delAG

5 papers

NM_000051.4

p.S2996Splc

c.8988-1G>A

5 papers

NM_000051.4

p.S2996Splc

c.8988-1G>C

1 paper

NM_000051.4

p.S2996Splc

c.8988-1G>T

4 papers

NM_000051.4

p.S2996Splc

c.8988-2A>G