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.E2232D

c.6696G>C

Surrounding Variants

1 paper

NM_000051.4

p.E2232D

c.6696G>T

1 paper

NM_000051.4

p.I2233fs

c.6697_6698fs

1 paper

NM_000051.4

p.I2233L

c.6697A>C

1 paper

NM_000051.4

p.I2233delFs

c.6698delT

1 paper

NM_000051.4

p.I2233fs

c.6697_6698fs

1 paper

NM_000051.4

p.E2232*

c.6694G>T

1 paper

NM_000051.4

p.I2233T

c.6698T>C

3 papers

NM_000051.4

p.I2233delFs

c.6699delC

1 paper

NM_000051.4

p.I2233M

c.6699C>G

1 paper

NM_000051.4

p.L2231_E2232insFs

c.6693_6694insC

2 papers

NM_000051.4

p.L2234fs

c.6700_6701fs

1 paper

NM_000051.4

p.L2234Q

c.6701T>A